Varaico: Literature-Extracted Genetic Variants

Gene:HBA1
Variant:p.H104P

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.H104P
c.311A>C
Surrounding Variants
1 paper
NM_000558.5
p.H104L
c.311A>T
1 paper
NM_000558.5
p.H104_T109delFs
c.312_327del16
1 paper
NM_000558.5
p.H104D
c.310C>G
3 papers
NM_000558.5
p.H104Y
c.310C>T
4 papers
NM_000558.5
p.S103R
c.309C>A
1 paper
NM_000558.5
p.S103R
c.309C>G
4 papers
NM_000558.5
p.C105S
c.313T>A
3 papers
NM_000558.5
p.C105Y
c.314G>A
1 paper
NM_000558.5
p.S103N
c.308G>A
2 papers
NM_000558.5
p.C105S
c.314G>C
1 paper
NM_000558.5
p.S103T
c.308G>C
5 papers
NM_000558.5
p.S103R
c.307A>C
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