Varaico: Literature-Extracted Genetic Variants

Gene:HBD
Variant:p.E7A

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.E7A
c.20A>C
Surrounding Variants
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.E7insFs
c.20dupA
1 paper
NM_000519.4
p.E7D
c.21G>C
1 paper
NM_000519.4
p.E7Q
c.19G>C
2 papers
NM_000519.4
p.E7E
c.21G>A
2 papers
NM_000519.4
p.E7K
c.19G>A
2 papers
NM_000519.4
p.P6delFs
c.17_18delAG
1 paper
NM_000519.4
p.E7delFs
c.20delT
1 paper
NM_000519.4
p.P6P
c.18T>G
1 paper
NM_000519.4
p.P6P
c.18T>C
1 paper
NM_000519.4
p.P6P
c.18T>A
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