Varaico: Literature-Extracted Genetic Variants

Gene:HBA1
Variant:p.V133A

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
1 paper
NM_000558.5
p.V133A
c.398T>C
Surrounding Variants
1 paper
NM_000558.5
p.V133G
c.398T>G
1 paper
NM_000558.5
p.V133insFs
c.398_399insG
2 papers
NM_000558.5
p.V133M
c.397G>A
1 paper
NM_000558.5
p.V133fs
c.397_398fs
2 papers
NM_000558.5
p.S134_T135insT
c.400_404ins3
1 paper
NM_000558.5
p.S134R
c.400A>C
1 paper
NM_000558.5
p.S134_V136delFs
c.401_407del7
2 papers
NM_000558.5
p.S132S
c.396T>C
17 papers
NM_000558.5
p.S132_V133insFs
c.396_397insT
2 papers
NM_000558.5
p.S132F
c.395C>T
3 papers
NM_000558.5
p.S132delFs
c.396delT
2 papers
NM_000558.5
p.S134R
c.402C>A
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."