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

8 papers

NM_002116.8

p.W191G

c.571T>G

Surrounding Variants

3 papers

NM_002116.8

p.W191R

c.571T>A

4 papers

NM_002116.8

p.W191R

c.571T>C

1 paper

NM_002116.8

p.W191*

c.572G>A

7 papers

NM_002116.8

p.E190D

c.570G>C

2 papers

NM_002116.8

p.W191S

c.572G>C

6 papers

NM_002116.8

p.E190D

c.570G>T

2 papers

NM_002116.8

p.E190_W191delins

c.570_571delinsCG

1 paper

NM_002116.8

p.E190insFs

c.569_570insC

1 paper

NM_002116.8

p.W191*

c.573G>A

2 papers

NM_002116.8

p.E190K

c.568G>A

1 paper

NM_002116.8

p.E190Q

c.568G>C

1 paper

NM_002116.8

p.E190fs

c.568_569fs