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.Y137_R138del2

c.409_413del6

Surrounding Variants

1 paper

NM_002116.8

p.G136R

c.406G>A

1 paper

NM_002116.8

p.G136R

c.406G>C

1 paper

NM_002116.8

p.G136E

c.407G>A

1 paper

NM_002116.8

p.R135H

c.404G>A

1 paper

NM_002116.8

p.G136G

c.408G>C

1 paper

NM_002116.8

p.R135fs

c.403_404fs

1 paper

NM_002116.8

p.Y137_R138delFs

c.411_412delCC

2 papers

NM_002116.8

p.Y137*

c.411C>A

2 papers

NM_002116.8

p.Y137*

c.411C>G

1 paper

NM_002116.8

p.Y137Y

c.411C>T

2 papers

NM_002116.8

p.L134P

c.401T>C

1 paper

NM_002116.8

p.L134delFs

c.402delC