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.E178*

c.532G>T

Surrounding Variants

1 paper

NM_002116.8

p.A177A

c.531G>A

3 papers

NM_002116.8

p.Q179*

c.535C>T

1 paper

NM_002116.8

p.A177S

c.529G>T

1 paper

NM_002116.8

p.A177_L184delFs

c.531_550del20

2 papers

NM_002116.8

p.Q179R

c.536A>G

6 papers

NM_002116.8

p.E176A

c.527A>C

1 paper

NM_002116.8

p.E176G

c.527A>G

7 papers

NM_002116.8

p.E176V

c.527A>T

1 paper

NM_002116.8

p.E176Q

c.526G>C

4 papers

NM_002116.8

p.E176*

c.526G>T

1 paper

NM_002116.8

p.L180L

c.538T>C

5 papers

NM_002116.8

p.L180delins

c.538_539delinsCA