Varaico: Literature-Extracted Genetic Variants

Gene:HBA1
Variant:p.K100_L101Splc

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
3 papers
NM_000558.5
p.K100_L101Splc
c.301-2A>G
Surrounding Variants
4 papers
NM_000558.5
p.K100_L101Splc
c.301-2A>T
4 papers
NM_000558.5
p.K100_L101Splc
c.301-3C>G
28 papers
NM_000558.5
p.K100_L101Splc
c.301-1G>A
2 papers
NM_000558.5
p.K100_L101Splc
c.301-1G>C
4 papers
NM_000558.5
p.L101F
c.301C>T
1 paper
NM_000558.5
p.L101fs
c.301_302fs
6 papers
NM_000558.5
p.L101P
c.302T>C
1 paper
NM_000558.5
p.L102P
c.305T>C
1 paper
NM_000558.5
p.K100_L101Splc
c.301-9T>C
5 papers
NM_000558.5
p.S103R
c.307A>C
1 paper
NM_000558.5
p.S103N
c.308G>A
1 paper
NM_000558.5
p.S103T
c.308G>C
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