Varaico: Literature-Extracted Genetic Variants

Gene:HBD
Variant:p.A11D

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.A11D
c.32C>A
Surrounding Variants
3 papers
NM_000519.4
p.A11V
c.32C>T
5 papers
NM_000519.4
p.A11delFs
c.31delC
1 paper
NM_000519.4
p.A11P
c.31G>C
5 papers
NM_000519.4
p.T10T
c.30T>C
2 papers
NM_000519.4
p.V12G
c.35T>G
1 paper
NM_000519.4
p.V12A
c.35T>C
1 paper
NM_000519.4
p.L4_A11delFs
c.12_33del22
1 paper
NM_000519.4
p.T10N
c.29C>A
3 papers
NM_000519.4
p.T10A
c.28A>G
5 papers
NM_000519.4
p.T10P
c.28A>C
1 paper
NM_000519.4
p.K9N
c.27G>T
1 paper
NM_000519.4
p.K9N
c.27G>C
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