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.Q96Q

c.288G>A

Surrounding Variants

9 papers

NM_002117.6

p.A97T

c.289G>A

1 paper

NM_002117.6

p.D98Y

c.292G>T

1 paper

NM_002117.6

p.A95V

c.284C>T

1 paper

NM_002117.6

p.R99L

c.296G>T

2 papers

NM_002117.6

p.R99Q

c.296G>A

1 paper

NM_002117.6

p.V100E

c.299T>A

1 paper

NM_002117.6

p.R93C

c.277C>T

1 paper

NM_002117.6

p.R93S

c.277C>A

1 paper

NM_002117.6

p.K92N

c.276G>T

1 paper

NM_002117.6

p.K92N

c.276G>C

5 papers

NM_002117.6

p.S101N

c.302G>A

1 paper

NM_002117.6

p.S101R

c.303C>A