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.L180L

c.538C>T

Surrounding Variants

2 papers

NM_002117.6

p.L180fs

c.538_539fs

3 papers

NM_002117.6

p.L180V

c.538C>G

1 paper

NM_002117.6

p.Q179_L180insFs

c.537_538insGA

9 papers

NM_002117.6

p.L180R

c.539T>G

1 paper

NM_002117.6

p.L180P

c.539T>C

6 papers

NM_002117.6

p.L180Q

c.539T>A

2 papers

NM_002117.6

p.L180delins

c.538_539delinsTG

1 paper

NM_002117.6

p.L180fs

c.538_539fs

1 paper

NM_002117.6

p.L180delFs

c.539delA

2 papers

NM_002117.6

p.L180delFs

c.539_540delCA

2 papers

NM_002117.6

p.A182T

c.544G>A

1 paper

NM_002117.6

p.Y183H

c.547T>C