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

2 papers

NM_002116.8

p.A173A

c.519G>A

Surrounding Variants

1 paper

NM_002116.8

p.A173E

c.518C>A

4 papers

NM_002116.8

p.A174V

c.521C>T

1 paper

NM_002116.8

p.A174_E176delins

c.521_527delinsTCCATGC

1 paper

NM_002116.8

p.A173T

c.517G>A

1 paper

NM_002116.8

p.A173fs

c.517_518fs

2 papers

NM_002116.8

p.E172D

c.516G>T

5 papers

NM_002116.8

p.H175R

c.524A>G

2 papers

NM_002116.8

p.H175_E176delins

c.524_527delinsGTGT

1 paper

NM_002116.8

p.E176Q

c.526G>C

4 papers

NM_002116.8

p.E176*

c.526G>T

6 papers

NM_002116.8

p.E176A

c.527A>C

1 paper

NM_002116.8

p.E176G

c.527A>G