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.D130D

c.390C>T

Surrounding Variants

1 paper

NM_002117.6

p.D130Y

c.388G>T

1 paper

NM_002117.6

p.P129P

c.387C>G

1 paper

NM_002117.6

p.P129fs

c.385_386fs

1 paper

NM_002117.6

p.R132Fs

c.394delinsATFs

1 paper

NM_002117.6

p.R132fs

c.394_395fs

1 paper

NM_002117.6

p.R132P

c.395G>C

3 papers

NM_002117.6

p.L133F

c.397C>T

1 paper

NM_002117.6

p.L134V

c.400C>G

3 papers

NM_002117.6

p.L127V

c.379C>G

1 paper

NM_002117.6

p.R135R

c.405C>G

1 paper

NM_002117.6

p.C125R

c.373T>C

7 papers

NM_002117.6

p.Y137H

c.409T>C