Varaico: Literature-Extracted Genetic Variants

Gene:HBA2
Variant:p.S53fs

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.S53fs
c.157_158fs
Surrounding Variants
2 papers
NM_000517.6
p.G52_S53insFs
c.156_157insG
7 papers
NM_000517.6
p.S53F
c.158C>T
1 paper
NM_000517.6
p.S53S
c.159T>G
6 papers
NM_000517.6
p.G52S
c.154G>A
5 papers
NM_000517.6
p.G52R
c.154G>C
1 paper
NM_000517.6
p.G52fs
c.154_155fs
2 papers
NM_000517.6
p.G52C
c.154G>T
3 papers
NM_000517.6
p.Q55delFs
c.163delC
1 paper
NM_000517.6
p.G52_V56delFs
c.155_167del13
6 papers
NM_000517.6
p.A54D
c.161C>A
1 paper
NM_000517.6
p.H51Q
c.153C>A
2 papers
NM_000517.6
p.H51Q
c.153C>G
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