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
1 paper
NM_000558.5
p.K100_L101Splc
c.300+58G>A
Surrounding Variants
9 papers
NM_000558.5
p.K100_L101Splc
c.300+55G>T
1 paper
NM_000558.5
p.K100_L101Splc
c.301-81C>T
1 paper
NM_000558.5
p.K100_L101Splc
c.301-74G>T
1 paper
NM_000558.5
p.K100_L101Splc
c.300+35G>A
1 paper
NM_000558.5
p.K100_L101Splc
c.301-61T>C
1 paper
NM_000558.5
p.K100_L101Splc
c.300+13C>G
2 papers
NM_000558.5
p.K100_L101Splc
c.301-142G>A
1 paper
NM_000558.5
p.K100_L101Splc
c.300+5G>C
1 paper
NM_000558.5
p.K100_L101Splc
c.300+2T>A
4 papers
NM_000558.5
p.K100_L101Splc
c.300+1G>A
2 papers
NM_000558.5
p.K100_L101Splc
c.301-34G>A
3 papers
NM_000558.5
p.K100N
c.300G>C
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