Varaico: Literature-Extracted Genetic Variants

Gene:HBA1
Variant:p.K62R

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
2 papers
NM_000558.5
p.K62R
c.185A>G
Surrounding Variants
1 paper
NM_000558.5
p.K62T
c.185A>C
5 papers
NM_000558.5
p.V63delFs
c.187delG
6 papers
NM_000558.5
p.V63del1
c.187_189delGTG
2 papers
NM_000558.5
p.K62_V63insT
c.184_188ins3
3 papers
NM_000558.5
p.K62*
c.184A>T
1 paper
NM_000558.5
p.K62fs
c.184_185fs
1 paper
NM_000558.5
p.K62N
c.186G>C
1 paper
NM_000558.5
p.K62N
c.186G>T
1 paper
NM_000558.5
p.K61K
c.183G>A
1 paper
NM_000558.5
p.V63M
c.187G>A
3 papers
NM_000558.5
p.K61N
c.183G>C
1 paper
NM_000558.5
p.V63fs
c.187_188fs
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