Varaico: Literature-Extracted Genetic Variants

Gene:HBA1
Variant:p.R142G

HBA1

827 papers

RefSeq Summary

The human alpha globin gene cluster located on chromosome 16 spans about 30 kb and includes seven loci: 5'- zeta - pseudozeta - mu - pseudoalpha-1 - alpha-2 - alpha-1 - theta - 3'. The alpha-2 (HBA2) ...

Gene Aliases

HGNC Name

hemoglobin subunit alpha 1

HGNC Alias Symbol

HBA-T3

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_000558.5
p.R142G
c.424C>G
Surrounding Variants
2 papers
NM_000558.5
p.R142S
c.424C>A
2 papers
NM_000558.5
p.Y141*
c.423C>A
1 paper
NM_000558.5
p.R142H
c.425G>A
2 papers
NM_000558.5
p.*143K
c.427T>A
6 papers
NM_000558.5
p.*143Q
c.427T>C
1 paper
NM_000558.5
p.Y141H
c.421T>C
1 paper
NM_000558.5
p.*143E
c.427T>G
1 paper
NM_000558.5
p.*143S
c.428A>C
2 papers
NM_000558.5
p.*143L
c.428A>T
1 paper
NM_000558.5
p.K140T
c.419A>C
2 papers
NM_000558.5
p.*143Y
c.429A>T
1 paper
NM_000558.5
p.K140E
c.418A>G
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