Varaico: Literature-Extracted Genetic Variants

Gene:HBA1
Variant:p.S85R

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.S85R
c.255C>G
Surrounding Variants
3 papers
NM_000558.5
p.S85R
c.255C>A
4 papers
NM_000558.5
p.D86N
c.256G>A
1 paper
NM_000558.5
p.D86H
c.256G>C
1 paper
NM_000558.5
p.D86Y
c.256G>T
2 papers
NM_000558.5
p.S85R
c.253A>C
1 paper
NM_000558.5
p.L87V
c.259C>G
1 paper
NM_000558.5
p.S85delFs
c.253_254delAG
2 papers
NM_000558.5
p.L84_S85insC
c.250_254ins3
1 paper
NM_000558.5
p.L87P
c.260T>C
1 paper
NM_000558.5
p.L87R
c.260T>G
1 paper
NM_000558.5
p.L87delFs
c.261delG
2 papers
NM_000558.5
p.A83D
c.248C>A
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."