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.T34delFs

c.101delC

Surrounding Variants

1 paper

NM_002116.8

p.F33L

c.99C>G

1 paper

NM_002116.8

p.T34T

c.102A>C

9 papers

NM_002116.8

p.F33Y

c.98T>A

4 papers

NM_002116.8

p.F33S

c.98T>C

1 paper

NM_002116.8

p.F33C

c.98T>G

1 paper

NM_002116.8

p.F33_T34delins

c.98_102delinsACACC

5 papers

NM_002116.8

p.F33I

c.97T>A

1 paper

NM_002116.8

p.F33V

c.97T>G

4 papers

NM_002116.8

p.F33delins

c.97_98delinsAC

1 paper

NM_002116.8

p.F32L

c.96C>G

2 papers

NM_002116.8

p.S35F

c.104C>T

1 paper

NM_002116.8

p.S35S

c.105C>T