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.R205C

c.613C>T

Surrounding Variants

1 paper

NM_002116.8

p.R205H

c.614G>A

1 paper

NM_002116.8

p.Q204H

c.612G>T

1 paper

NM_002116.8

p.Q204R

c.611A>G

1 paper

NM_002116.8

p.Q204L

c.611A>T

3 papers

NM_002116.8

p.T206fs

c.616_617fs

1 paper

NM_002116.8

p.T206A

c.616A>G

1 paper

NM_002116.8

p.T206S

c.616A>T

1 paper

NM_002116.8

p.Q204_R205insAG

c.610_614ins6

2 papers

NM_002116.8

p.Q204*

c.610C>T

1 paper

NM_002116.8

p.T206R

c.617C>G

6 papers

NM_002116.8

p.D207delFs

c.619delG

1 paper

NM_002116.8

p.T206T

c.618G>T