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.I148I

c.444C>T

Surrounding Variants

1 paper

NM_002117.6

p.A149S

c.445G>T

1 paper

NM_002117.6

p.I148L

c.442A>C

1 paper

NM_002117.6

p.Y147*

c.441C>G

1 paper

NM_002117.6

p.Y147*

c.441C>A

1 paper

NM_002117.6

p.L150R

c.449T>G

1 paper

NM_002117.6

p.N151D

c.451A>G

1 paper

NM_002117.6

p.K145K

c.435G>A

1 paper

NM_002117.6

p.N151K

c.453C>G

1 paper

NM_002117.6

p.N151K

c.453C>A

1 paper

NM_002117.6

p.E152V

c.455A>T

1 paper

NM_002117.6

p.D153N

c.457G>A

1 paper

NM_002117.6

p.G144S

c.430G>A