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

9 papers

NM_002116.8

p.D140Y

c.418G>T

Surrounding Variants

1 paper

NM_002116.8

p.D140N

c.418G>A

4 papers

NM_002116.8

p.D140H

c.418G>C

1 paper

NM_002116.8

p.D140fs

c.418_419fs

1 paper

NM_002116.8

p.Q139_D140insFs

c.417_418ins4

3 papers

NM_002116.8

p.Q139*

c.415C>T

1 paper

NM_002116.8

p.Q139fs

c.415_416fs

1 paper

NM_002116.8

p.A141T

c.421G>A

1 paper

NM_002116.8

p.R138R

c.414G>C

1 paper

NM_002116.8

p.R138_Q139insFs

c.414_415insAA

9 papers

NM_002116.8

p.R138Q

c.413G>A

1 paper

NM_002116.8

p.R138L

c.413G>T

2 papers

NM_002116.8

p.R138delins

c.413_414delinsAC