Varaico: Literature-Extracted Genetic Variants

Gene:HBA1
Variant:p.P120S

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
16 papers
NM_000558.5
p.P120S
c.358C>T
Surrounding Variants
2 papers
NM_000558.5
p.T119_P120ins1
c.357_358insTCA
3 papers
NM_000558.5
p.P120L
c.359C>T
1 paper
NM_000558.5
p.T119N
c.356C>A
1 paper
NM_000558.5
p.T119I
c.356C>T
1 paper
NM_000558.5
p.T119_P120insT
c.355_359ins3
1 paper
NM_000558.5
p.P120delFs
c.359delC
3 papers
NM_000558.5
p.A121E
c.362C>A
1 paper
NM_000558.5
p.F118_T119insFs
c.354_355insAT
1 paper
NM_000558.5
p.V122ins0
c.364_366dupGTG
4 papers
NM_000558.5
p.F118_T119ins1
c.354_355insTCA
2 papers
NM_000558.5
p.T119_A121del3
c.355_362del9
1 paper
NM_000558.5
p.F118delFs
c.354delC
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."