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.C25G

c.73T>G

Surrounding Variants

2 papers

NM_002117.6

p.C25Splc

c.74-1G>C

1 paper

NM_002117.6

p.C25Splc

c.74-1G>A

1 paper

NM_002117.6

p.C25Splc

c.74-2A>G

1 paper

NM_002117.6

p.C25W

c.75C>G

1 paper

NM_002117.6

p.C25Splc

c.74-4C>T

1 paper

NM_002117.6

p.S26S

c.78C>G

2 papers

NM_002117.6

p.R30K

c.89G>A

1 paper

NM_002117.6

p.Y31H

c.91T>C

1 paper

NM_002117.6

p.Y31C

c.92A>G

1 paper

NM_002117.6

p.Y31Y

c.93T>C

11 papers

NM_002117.6

p.D33Y

c.97G>T

2 papers

NM_002117.6

p.D33H

c.97G>C