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.T20T

c.60C>T

Surrounding Variants

1 paper

NM_002117.6

p.T20I

c.59C>T

1 paper

NM_002117.6

p.T20S

c.58A>T

1 paper

NM_002117.6

p.W23C

c.69G>T

1 paper

NM_002117.6

p.W23C

c.69G>C

1 paper

NM_002117.6

p.A24P

c.70G>C

1 paper

NM_002117.6

p.A18_W23delFs

c.53_69del17

1 paper

NM_002117.6

p.C25G

c.73T>G

1 paper

NM_002117.6

p.C25R

c.73T>C

1 paper

NM_002117.6

p.C25S

c.73T>A

2 papers

NM_002117.6

p.G16A

c.47G>C

1 paper

NM_002117.6

p.G16S

c.46G>A

1 paper

NM_002117.6

p.G15E

c.44G>A