Varaico: Literature-Extracted Genetic Variants

Gene:HBA1
Variant:p.E117K

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
10 papers
NM_000558.5
p.E117K
c.349G>A
Surrounding Variants
3 papers
NM_000558.5
p.E117*
c.349G>T
2 papers
NM_000558.5
p.E117A
c.350A>C
1 paper
NM_000558.5
p.F118_L126del9
c.352_377del27
1 paper
NM_000558.5
p.A116V
c.347C>T
1 paper
NM_000558.5
p.E117D
c.351G>T
2 papers
NM_000558.5
p.F118_P120del3
c.352_359del9
1 paper
NM_000558.5
p.E117_T119ins1
c.349_357dup9
13 papers
NM_000558.5
p.F118_T119ins0
c.353_355dupTCA
1 paper
NM_000558.5
p.F118delFs
c.354delC
5 papers
NM_000558.5
p.P115H
c.344C>A
1 paper
NM_000558.5
p.F118_T119insFs
c.354_355insAT
4 papers
NM_000558.5
p.F118_T119ins1
c.354_355insTCA
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."