Varaico: Literature-Extracted Genetic Variants

HLA-C

588 papers

RefSeq Summary

HLA-C belongs to the HLA class I heavy chain paralogues. This class I molecule is a heterodimer consisting of a heavy chain and a light chain (beta-2 microglobulin). The heavy chain is anchored in the...

Pfam Domains

MHC_Iaa 25–203UCSCClass I Histocompatibility antigen, domains alpha 1 and 2

C1-setaa 211–290UCSCImmunoglobulin C1-set domain

MHC_I_Caa 338–365UCSCMHC_I C-terminus

Gene Aliases

HGNC Name

major histocompatibility complex, class I, C

HGNC Previous Symbols

HLA-JY3; D6S204; PSORS1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_002117.6

p.T34_A35delins

c.102_103delinsAT

Surrounding Variants

4 papers

NM_002117.6

p.A35S

c.103G>T

1 paper

NM_002117.6

p.A35V

c.104C>T

1 paper

NM_002117.6

p.T34T

c.102C>G

2 papers

NM_002117.6

p.T34I

c.101C>T

4 papers

NM_002117.6

p.V36M

c.106G>A

1 paper

NM_002117.6

p.V36G

c.107T>G

1 paper

NM_002117.6

p.D33V

c.98A>T

3 papers

NM_002117.6

p.D33A

c.98A>C

1 paper

NM_002117.6

p.D33delins

c.97_98delinsTT

1 paper

NM_002117.6

p.D33delins

c.97_98delinsTC

1 paper

NM_002117.6

p.S37_R38insCC

c.109_113ins6

1 paper

NM_002117.6

p.S37T

c.109T>A