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.A176S

c.526G>T

Surrounding Variants

3 papers

NM_002117.6

p.A176V

c.527C>T

4 papers

NM_002117.6

p.A176E

c.527C>A

1 paper

NM_002117.6

p.R175P

c.524G>C

1 paper

NM_002117.6

p.R175H

c.524G>A

1 paper

NM_002117.6

p.A174T

c.520G>A

1 paper

NM_002117.6

p.A173A

c.519G>T

2 papers

NM_002117.6

p.E172D

c.516G>T

1 paper

NM_002117.6

p.E172E

c.516G>A

2 papers

NM_002117.6

p.L180fs

c.538_539fs

1 paper

NM_002117.6

p.L180L

c.538C>T

3 papers

NM_002117.6

p.L180V

c.538C>G

1 paper

NM_002117.6

p.Q179_L180insFs

c.537_538insGA