Varaico: Literature-Extracted Genetic Variants

Gene:HBA1
Variant:p.G16C

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
2 papers
NM_000558.5
p.G16C
c.46G>T
Surrounding Variants
1 paper
NM_000558.5
p.G16S
c.46G>A
12 papers
NM_000558.5
p.G16R
c.46G>C
7 papers
NM_000558.5
p.G16D
c.47G>A
1 paper
NM_000558.5
p.W15*
c.45G>A
2 papers
NM_000558.5
p.W15C
c.45G>C
2 papers
NM_000558.5
p.G16A
c.47G>C
13 papers
NM_000558.5
p.W15*
c.44G>A
2 papers
NM_000558.5
p.W15L
c.44G>T
1 paper
NM_000558.5
p.K17_G19ins1
c.50_55dup6
2 papers
NM_000558.5
p.K17E
c.49A>G
2 papers
NM_000558.5
p.K17*
c.49A>T
9 papers
NM_000558.5
p.W15R
c.43T>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."