Varaico: Literature-Extracted Genetic Variants

Gene:HBA1
Variant:p.K61R

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.K61R
c.182A>G
Surrounding Variants
1 paper
NM_000558.5
p.K61T
c.182A>C
2 papers
NM_000558.5
p.K61E
c.181A>G
1 paper
NM_000558.5
p.K61K
c.183G>A
3 papers
NM_000558.5
p.K61N
c.183G>C
3 papers
NM_000558.5
p.K61N
c.183G>T
1 paper
NM_000558.5
p.K62delFs
c.184delA
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.G60G
c.180C>T
4 papers
NM_000558.5
p.K62del1
c.184_186delAAG
1 paper
NM_000558.5
p.K62T
c.185A>C
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