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

7 papers

NM_002117.6

p.S140Y

c.419C>A

Surrounding Variants

9 papers

NM_002117.6

p.S140F

c.419C>T

1 paper

NM_002117.6

p.S140A

c.418T>G

1 paper

NM_002117.6

p.S140P

c.418T>C

1 paper

NM_002117.6

p.A141V

c.422C>T

1 paper

NM_002117.6

p.Q139*

c.415C>T

1 paper

NM_002117.6

p.Y142H

c.424T>C

6 papers

NM_002117.6

p.D138N

c.412G>A

1 paper

NM_002117.6

p.D143N

c.427G>A

7 papers

NM_002117.6

p.Y137H

c.409T>C

1 paper

NM_002117.6

p.G144S

c.430G>A

1 paper

NM_002117.6

p.R135R

c.405C>G

1 paper

NM_002117.6

p.K145K

c.435G>A