Varaico: Literature-Extracted Genetic Variants

Gene:HBA1
Variant:p.E31V

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.E31V
c.92A>T
Surrounding Variants
2 papers
NM_000558.5
p.E31A
c.92A>C
2 papers
NM_000558.5
p.E31G
c.92A>G
1 paper
NM_000558.5
p.E31K
c.91G>A
1 paper
NM_000558.5
p.E31Q
c.91G>C
2 papers
NM_000558.5
p.E31*
c.91G>T
1 paper
NM_000558.5
p.R32R
c.94A>C
3 papers
NM_000558.5
p.R32G
c.94A>G
1 paper
NM_000558.5
p.L30L
c.90G>C
1 paper
NM_000558.5
p.L30L
c.90G>T
1 paper
NM_000558.5
p.R32delFs
c.94_95delAG
3 papers
NM_000558.5
p.R32K
c.95G>A
2 papers
NM_000558.5
p.R32T
c.95G>C
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