Varaico: Literature-Extracted Genetic Variants

Gene:HBD
Variant:p.H93P

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.H93P
c.278A>C
Surrounding Variants
1 paper
NM_000519.4
p.H93Y
c.277C>T
2 papers
NM_000519.4
p.C94G
c.280T>G
1 paper
NM_000519.4
p.L92insFs
c.275dupT
1 paper
NM_000519.4
p.L92fs
c.274_275fs
1 paper
NM_000519.4
p.L92P
c.275T>C
1 paper
NM_000519.4
p.C94Y
c.281G>A
1 paper
NM_000519.4
p.C94W
c.282T>G
1 paper
NM_000519.4
p.S90R
c.270T>G
1 paper
NM_000519.4
p.S90N
c.269G>A
1 paper
NM_000519.4
p.L89delFs
c.266delA
1 paper
NM_000519.4
p.L97R
c.290T>G
1 paper
NM_000519.4
p.L97P
c.290T>C
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