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

1–12 of 491 variants

11 papers

NM_002117.6

p.D33Y

c.97G>T

9 papers

NM_002117.6

p.A97T

c.289G>A

9 papers

NM_002117.6

p.S140F

c.419C>T

9 papers

NM_002117.6

p.L180R

c.539T>G

8 papers

NM_002117.6

p.N104K

c.312C>A

8 papers

NM_002117.6

p.S123Y

c.368C>A

7 papers

NM_002117.6

p.K90N

c.270G>C

7 papers

NM_002117.6

p.R121W

c.361A>T

7 papers

NM_002117.6

p.Y137H

c.409T>C

7 papers

NM_002117.6

p.S140Y

c.419C>A

7 papers

NM_002117.6

p.E197K

c.589G>A

6 papers

NM_002117.6

p.M4I

c.12G>C