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

2 papers

NM_002117.6

p.S123delins

c.368_369delinsAC

Surrounding Variants

1 paper

NM_002117.6

p.G124C

c.370G>T

1 paper

NM_002117.6

p.S123F

c.368C>T

8 papers

NM_002117.6

p.S123Y

c.368C>A

1 paper

NM_002117.6

p.S123P

c.367T>C

1 paper

NM_002117.6

p.M122I

c.366G>A

1 paper

NM_002117.6

p.C125R

c.373T>C

1 paper

NM_002117.6

p.R121S

c.363G>T

1 paper

NM_002117.6

p.R121fs

c.361_362fs

1 paper

NM_002117.6

p.R121S

c.363G>C

1 paper

NM_002117.6

p.R121T

c.362G>C

7 papers

NM_002117.6

p.R121W

c.361A>T

1 paper

NM_002117.6

p.Q120_R121ins4

c.360_361ins12