RBCC Red Blood Cell Collection

VP13C_HUMAN

Source: PM23856902
PM22954596
Marked as 'Non-membrane protein'
Confidence: medium (present in either hRBCD or BSc_CH or PM22954596) Search PubMed for
(RBC AND this entry)
Gene names: VPS13C , KIAA1421
Protein names and data: VP13C_HUMAN , Vacuolar protein sorting-associated protein 13C Lenght: 3753 a.a.
Mass: 422390 Da
fasta formatted sequence
Tissue specificity: Widely expressed.

Genetic variants

153 - 153 R -> H (in dbSNP:rs12595158). VAR_029548 12595158
974 - 974 R -> K (in dbSNP:rs3784634). VAR_029549 3784634
1132 - 1132 I -> V (in dbSNP:rs3784635). VAR_029550 3784635
1302 - 1302 Y -> C (in dbSNP:rs2303405). VAR_029551 2303405
1485 - 1485 T -> A (in dbSNP:rs8026956). VAR_029552 8026956
1495 - 1495 I -> V (in dbSNP:rs11629598). VAR_029553 11629598
1592 - 1592 S -> Y (in dbSNP:rs11629838). VAR_029554 11629838
2322 - 2322 V -> M (in dbSNP:rs12907567). VAR_029555 12907567
2808 - 2808 K -> R (in dbSNP:rs34060567). VAR_053808 34060567
2913 - 2913 S -> N (in dbSNP:rs10851704). VAR_029556 10851704

Database cross-references

UniProt: Q709C8
Ensembl: ENST00000249837
Ensembl: ENST00000261517
Ensembl: ENST00000395896
Ensembl: ENST00000395898
MIM: 608879
neXtProt: NX_Q709C8
Antibodypedia: Q709C8 (may not find the protein thus also not any antibody)
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