Varaico: Literature-Extracted Genetic Variants

Gene:HBA1
Variant:p.S53C

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
4 papers
NM_000558.5
p.S53C
c.158C>G
Surrounding Variants
6 papers
NM_000558.5
p.S53F
c.158C>T
1 paper
NM_000558.5
p.S53A
c.157T>G
1 paper
NM_000558.5
p.A54D
c.161C>A
1 paper
NM_000558.5
p.G52D
c.155G>A
11 papers
NM_000558.5
p.G52S
c.154G>A
3 papers
NM_000558.5
p.G52R
c.154G>C
1 paper
NM_000558.5
p.G52fs
c.154_155fs
1 paper
NM_000558.5
p.G52fs
c.154_155fs
2 papers
NM_000558.5
p.G52_V56delFs
c.155_167del13
1 paper
NM_000558.5
p.H51Q
c.153C>A
3 papers
NM_000558.5
p.Q55E
c.163C>G
2 papers
NM_000558.5
p.H51Q
c.153C>G
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