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

3 papers

NM_002116.8

p.T97A

c.289A>G

Surrounding Variants

2 papers

NM_002116.8

p.T97I

c.290C>T

1 paper

NM_002116.8

p.Q96L

c.287A>T

1 paper

NM_002116.8

p.Q96*

c.286C>T

9 papers

NM_002116.8

p.D98H

c.292G>C

1 paper

NM_002116.8

p.D98Y

c.292G>T

2 papers

NM_002116.8

p.S95*

c.284C>A

1 paper

NM_002116.8

p.S95_Q96insFs

c.285_286insA

2 papers

NM_002116.8

p.S95*

c.284C>G

1 paper

NM_002116.8

p.S95L

c.284C>T

1 paper

NM_002116.8

p.D98D

c.294C>T

1 paper

NM_002116.8

p.S95delFs

c.285delA

1 paper

NM_002116.8

p.R99insFs

c.295_296insTA