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.E201D

c.603G>C

Surrounding Variants

2 papers

NM_002117.6

p.E201D

c.603G>T

2 papers

NM_002117.6

p.E201K

c.601G>A

1 paper

NM_002117.6

p.T202M

c.605C>T

1 paper

NM_002117.6

p.K200fs

c.598_599fs

1 paper

NM_002117.6

p.T202T

c.606G>C

1 paper

NM_002117.6

p.G199R

c.595G>C

1 paper

NM_002117.6

p.G199R

c.595G>A

2 papers

NM_002117.6

p.A206_E207insAT

c.616_620ins6

2 papers

NM_002117.6

p.Q204_R205del2

c.610_614del6

7 papers

NM_002117.6

p.E197K

c.589G>A

1 paper

NM_002117.6

p.A206V

c.617C>T

1 paper

NM_002117.6

p.E207Splc

c.619+1G>A