Varaico: Literature-Extracted Genetic Variants

HLA-A

1,059 papers

RefSeq Summary

HLA-A 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 337–364UCSCMHC_I C-terminus

Gene Aliases

HGNC Name

major histocompatibility complex, class I, A

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_002116.8

p.L290L

c.870G>C

Surrounding Variants

1 paper

NM_002116.8

p.L290P

c.869T>C

1 paper

NM_002116.8

p.L290L

c.868C>T

5 papers

NM_002116.8

p.K292E

c.874A>G

1 paper

NM_002116.8

p.K292*

c.874A>T

3 papers

NM_002116.8

p.G289D

c.866G>A

1 paper

NM_002116.8

p.K292R

c.875A>G

1 paper

NM_002116.8

p.K292_P293insFs

c.876_877insCC

1 paper

NM_002116.8

p.P293fs

c.877_878fs

1 paper

NM_002116.8

p.L294F

c.880C>T

1 paper

NM_002116.8

p.L294fs

c.880_881fs

1 paper

NM_002116.8

p.T295_L296insTA

c.883_887ins6

1 paper

NM_002116.8

p.Q286*

c.856C>T