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.R45H

c.134G>A

Surrounding Variants

1 paper

NM_002117.6

p.F46L

c.138C>A

1 paper

NM_002117.6

p.I47V

c.139A>G

4 papers

NM_002117.6

p.S48A

c.142T>G

1 paper

NM_002117.6

p.G42G

c.126A>G

1 paper

NM_002117.6

p.S48L

c.143C>T

1 paper

NM_002117.6

p.G42R

c.124G>C

1 paper

NM_002117.6

p.V49A

c.146T>C

2 papers

NM_002117.6

p.R41S

c.121C>A

1 paper

NM_002117.6

p.G50S

c.148G>A

1 paper

NM_002117.6

p.G40delFs

c.118_119delCC

1 paper

NM_002117.6

p.G40S

c.118G>A

1 paper

NM_002117.6

p.R38R

c.114G>C