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

2 papers

NM_002116.8

p.A48A

c.144C>A

Surrounding Variants

1 paper

NM_002116.8

p.V49L

c.145G>C

1 paper

NM_002116.8

p.A48T

c.142G>A

6 papers

NM_002116.8

p.A48S

c.142G>T

1 paper

NM_002116.8

p.V49A

c.146T>C

1 paper

NM_002116.8

p.V49G

c.146T>G

1 paper

NM_002116.8

p.A48delFs

c.142delG

2 papers

NM_002116.8

p.V49V

c.147G>C

1 paper

NM_002116.8

p.G50R

c.148G>C

1 paper

NM_002116.8

p.G50fs

c.148_149fs

1 paper

NM_002116.8

p.G50C

c.148G>T

1 paper

NM_002116.8

p.I47T

c.140T>C

1 paper

NM_002116.8

p.I47L

c.139A>C