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

8 papers

NM_002117.6

p.N104K

c.312C>A

Surrounding Variants

6 papers

NM_002117.6

p.N104K

c.312C>G

1 paper

NM_002117.6

p.N104I

c.311A>T

1 paper

NM_002117.6

p.L105R

c.314T>G

2 papers

NM_002117.6

p.L105P

c.314T>C

1 paper

NM_002117.6

p.L105_R106insFs

c.315_316insC

2 papers

NM_002117.6

p.R103Q

c.308G>A

1 paper

NM_002117.6

p.R106C

c.316C>T

1 paper

NM_002117.6

p.R106L

c.317G>T

1 paper

NM_002117.6

p.R103W

c.307C>T

1 paper

NM_002117.6

p.R103G

c.307C>G

1 paper

NM_002117.6

p.R106fs

c.316_317fs

1 paper

NM_002117.6

p.S101R

c.303C>A