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.W191G

c.571T>G

Surrounding Variants

1 paper

NM_002117.6

p.E190D

c.570G>T

5 papers

NM_002117.6

p.W191S

c.572G>C

1 paper

NM_002117.6

p.E190D

c.570G>C

1 paper

NM_002117.6

p.E190K

c.568G>A

1 paper

NM_002117.6

p.L192L

c.576C>T

1 paper

NM_002117.6

p.R193S

c.577C>A

1 paper

NM_002117.6

p.C188W

c.564C>G

1 paper

NM_002117.6

p.C188F

c.563G>T

2 papers

NM_002117.6

p.R194G

c.580A>G

3 papers

NM_002117.6

p.T187M

c.560C>T

1 paper

NM_002117.6

p.T187delins

c.559_560delinsCT

4 papers

NM_002117.6

p.Y195H

c.583T>C