Varaico: Literature-Extracted Genetic Variants

Gene:HBD
Variant:p.E8A

HBD

299 papers

RefSeq Summary

The delta (HBD) and beta (HBB) genes are normally expressed in the adult: two alpha chains plus two beta chains constitute HbA, which in normal adult life comprises about 97% of the total hemoglobin. ...

Pfam Domains

Globinaa 26–142UCSCGlobin

Gene Aliases

HGNC Name

hemoglobin subunit delta

HGNC Alias Symbol

HBK

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_000519.4
p.E8A
c.23A>C
Surrounding Variants
1 paper
NM_000519.4
p.E8D
c.24G>T
1 paper
NM_000519.4
p.E8*
c.22G>T
1 paper
NM_000519.4
p.E8D
c.24G>C
1 paper
NM_000519.4
p.E8K
c.22G>A
1 paper
NM_000519.4
p.E7insFs
c.20dupA
1 paper
NM_000519.4
p.E7D
c.21G>C
2 papers
NM_000519.4
p.E7E
c.21G>A
1 paper
NM_000519.4
p.E7delFs
c.20delT
2 papers
NM_000519.4
p.E8del1
c.22_24delCTC
5 papers
NM_000519.4
p.E7V
c.20A>T
3 papers
NM_000519.4
p.E7G
c.20A>G
1 paper
NM_000519.4
p.K9R
c.26A>G
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."