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.A163A

c.489G>A

Surrounding Variants

1 paper

NM_002117.6

p.T162T

c.486C>G

1 paper

NM_002117.6

p.Q165E

c.493C>G

2 papers

NM_002117.6

p.T162N

c.485C>A

2 papers

NM_002117.6

p.T167S

c.499A>T

1 paper

NM_002117.6

p.A160S

c.478G>T

2 papers

NM_002117.6

p.T167S

c.500C>G

1 paper

NM_002117.6

p.A159P

c.475G>C

2 papers

NM_002117.6

p.Q168P

c.503A>C

1 paper

NM_002117.6

p.T158T

c.474C>T

1 paper

NM_002117.6

p.R169L

c.506G>T

1 paper

NM_002117.6

p.W157C

c.471G>C

1 paper

NM_002117.6

p.K170*

c.508A>T