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.L119R

c.356T>G

Surrounding Variants

3 papers

NM_002117.6

p.T118_L119delFs

c.354_355delGG

2 papers

NM_002117.6

p.L119F

c.355C>T

2 papers

NM_002117.6

p.L119_Q120insFs

c.357_358insGG

4 papers

NM_002117.6

p.L119I

c.355C>A

1 paper

NM_002117.6

p.L119fs

c.355_356fs

1 paper

NM_002117.6

p.T118_L119delins

c.354_357delinsTTGG

1 paper

NM_002117.6

p.T118_L119delins

c.353_355delinsTCA

1 paper

NM_002117.6

p.Q120fs

c.358_359fs

1 paper

NM_002117.6

p.T118fs

c.352_353fs

1 paper

NM_002117.6

p.T118_L119del2

c.352_356del6

2 papers

NM_002117.6

p.T118I

c.353C>T

2 papers

NM_002117.6

p.Q120fs

c.358_359fs