Varaico: Literature-Extracted Genetic Variants

Gene:HBD
Variant:p.D53G

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
3 papers
NM_000519.4
p.D53G
c.158A>G
Surrounding Variants
5 papers
NM_000519.4
p.D53H
c.157G>C
1 paper
NM_000519.4
p.P52P
c.156T>G
1 paper
NM_000519.4
p.A54V
c.161C>T
2 papers
NM_000519.4
p.P52S
c.154C>T
1 paper
NM_000519.4
p.V55A
c.164T>C
2 papers
NM_000519.4
p.S51T
c.151T>A
1 paper
NM_000519.4
p.S50delFs
c.150delG
1 paper
NM_000519.4
p.S50P
c.148T>C
1 paper
NM_000519.4
p.S50T
c.148T>A
1 paper
NM_000519.4
p.G57R
c.169G>C
1 paper
NM_000519.4
p.L49L
c.147G>C
1 paper
NM_000519.4
p.L49L
c.147G>A
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