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.L154L

c.460C>T

Surrounding Variants

1 paper

NM_002116.8

p.L154fs

c.460_461fs

1 paper

NM_002116.8

p.L154fs

c.460_461fs

1 paper

NM_002116.8

p.D153_A160delFs

c.459_478del20

1 paper

NM_002116.8

p.D153N

c.457G>A

1 paper

NM_002116.8

p.R155H

c.464G>A

1 paper

NM_002116.8

p.R155P

c.464G>C

1 paper

NM_002116.8

p.E152A

c.455A>C

2 papers

NM_002116.8

p.E152V

c.455A>T

13 papers

NM_002116.8

p.N151K

c.453C>A

13 papers

NM_002116.8

p.N151K

c.453C>G

1 paper

NM_002116.8

p.W157*

c.470G>A

1 paper

NM_002116.8

p.W157S

c.470G>C