Varaico: Literature-Extracted Genetic Variants

Gene:HBA2
Variant:p.M1insFs

HBA2

1,116 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) ...

Pfam Domains

Globinaa 27–137UCSCGlobin
Globinaa 27–137UCSCGlobin

Gene Aliases

HGNC Name

hemoglobin subunit alpha 2

HGNC Alias Symbol

HBA-T2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_000517.6
p.M1insFs
c.1_2ins7
Surrounding Variants
2 papers
NM_000517.6
p.M1fs
c.1_2fs
1 paper
NM_000517.6
p.M1L
c.1A>C
16 papers
NM_000517.6
p.M1V
c.1A>G
4 papers
NM_000517.6
p.M1L
c.1A>T
24 papers
NM_000517.6
p.M1delFs
c.2delT
15 papers
NM_000517.6
p.M1delFs
c.1delA
1 paper
NM_000517.6
p.M1_T9delFs
c.1_25del25
5 papers
NM_000517.6
p.M1K
c.2T>A
29 papers
NM_000517.6
p.M1T
c.2T>C
12 papers
NM_000517.6
p.M1R
c.2T>G
5 papers
NM_000517.6
p.M1insFs
c.3dupG
1 paper
NM_000517.6
p.V2delFs
c.4delG
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."