Varaico: Literature-Extracted Genetic Variants

Gene:HBD
Variant:p.Y131fs

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.Y131fs
c.391_392fs
Surrounding Variants
1 paper
NM_000519.4
p.Y131delFs
c.391delA
2 papers
NM_000519.4
p.Q132E
c.394C>G
1 paper
NM_000519.4
p.K133E
c.397A>G
2 papers
NM_000519.4
p.K133T
c.398A>C
2 papers
NM_000519.4
p.V134M
c.400G>A
1 paper
NM_000519.4
p.V134A
c.401T>C
1 paper
NM_000519.4
p.M127K
c.380T>A
1 paper
NM_000519.4
p.V135E
c.404T>A
1 paper
NM_000519.4
p.Q126R
c.377A>G
1 paper
NM_000519.4
p.P125P
c.375A>T
1 paper
NM_000519.4
p.P125L
c.374C>T
8 papers
NM_000519.4
p.G137D
c.410G>A
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