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

5 papers

NM_002117.6

p.E70A

c.209A>C

Surrounding Variants

2 papers

NM_002117.6

p.G69fs

c.205_206fs

2 papers

NM_002117.6

p.G69insFs

c.206_207insAT

2 papers

NM_002117.6

p.R68_G69delFs

c.204_205delCT

1 paper

NM_002117.6

p.G69R

c.205G>A

1 paper

NM_002117.6

p.R72W

c.214C>T

2 papers

NM_002117.6

p.R68fs

c.202_203fs

1 paper

NM_002117.6

p.R72P

c.215G>C

1 paper

NM_002117.6

p.P67P

c.201G>A

5 papers

NM_002117.6

p.A73E

c.218C>A

1 paper

NM_002117.6

p.P67S

c.199C>T

1 paper

NM_002117.6

p.W75*

c.224G>A

1 paper

NM_002117.6

p.A65V

c.194C>T