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.R7Q

c.20G>A

Surrounding Variants

1 paper

NM_002117.6

p.R7delFs

c.19delG

2 papers

NM_002117.6

p.R7*

c.19C>T

1 paper

NM_002117.6

p.R7insFs

c.19_20insG

1 paper

NM_002117.6

p.R7fs

c.19_20fs

2 papers

NM_002117.6

p.A8T

c.22G>A

1 paper

NM_002117.6

p.P6L

c.17C>T

1 paper

NM_002117.6

p.L9V

c.25C>G

1 paper

NM_002117.6

p.L9P

c.26T>C

1 paper

NM_002117.6

p.A5E

c.14C>A

1 paper

NM_002117.6

p.A5P

c.13G>C

6 papers

NM_002117.6

p.M4I

c.12G>C

3 papers

NM_002117.6

p.M4I

c.12G>A