Varaico: Literature-Extracted Genetic Variants

Gene:HBA2
Variant:p.E117fs

HBA2

1,116 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) ...

Pfam Domains

Globinaa 27–137UCSCGlobin
Globinaa 27–137UCSCGlobin

Gene Aliases

HGNC Name

hemoglobin subunit alpha 2

HGNC Alias Symbol

HBA-T2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_000517.6
p.E117fs
c.349_350fs
Surrounding Variants
3 papers
NM_000517.6
p.E117K
c.349G>A
3 papers
NM_000517.6
p.E117Q
c.349G>C
6 papers
NM_000517.6
p.E117*
c.349G>T
3 papers
NM_000517.6
p.E117V
c.350A>T
1 paper
NM_000517.6
p.A116D
c.347C>A
2 papers
NM_000517.6
p.A116fs
c.346_347fs
3 papers
NM_000517.6
p.A116fs
c.346_347fs
4 papers
NM_000517.6
p.E117_P120delFs
c.349_359del11
1 paper
NM_000517.6
p.F118I
c.352T>A
1 paper
NM_000517.6
p.F118_T119insA
c.352_356ins3
4 papers
NM_000517.6
p.F118S
c.353T>C
4 papers
NM_000517.6
p.P115L
c.344C>T
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