Varaico: Literature-Extracted Genetic Variants

Gene:HBD
Variant:p.T39I

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.T39I
c.116C>T
Surrounding Variants
1 paper
NM_000519.4
p.T39T
c.117C>A
2 papers
NM_000519.4
p.T39A
c.115A>G
12 papers
NM_000519.4
p.Q40*
c.118C>T
1 paper
NM_000519.4
p.Q40K
c.118C>A
1 paper
NM_000519.4
p.T39_Q40delins
c.117_118delinsTA
1 paper
NM_000519.4
p.W38S
c.113G>C
2 papers
NM_000519.4
p.W38*
c.113G>A
2 papers
NM_000519.4
p.P37R
c.110C>G
3 papers
NM_000519.4
p.P37H
c.110C>A
1 paper
NM_000519.4
p.R41S
c.123G>T
2 papers
NM_000519.4
p.F42L
c.124T>C
1 paper
NM_000519.4
p.Y36C
c.107A>G
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