Varaico: Literature-Extracted Genetic Variants

Gene:HBD
Variant:p.G47R

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
4 papers
NM_000519.4
p.G47R
c.139G>A
Surrounding Variants
1 paper
NM_000519.4
p.G47R
c.139G>C
2 papers
NM_000519.4
p.G47V
c.140G>T
4 papers
NM_000519.4
p.G47E
c.140G>A
2 papers
NM_000519.4
p.F46V
c.136T>G
7 papers
NM_000519.4
p.D48N
c.142G>A
1 paper
NM_000519.4
p.D48E
c.144T>G
1 paper
NM_000519.4
p.D48E
c.144T>A
1 paper
NM_000519.4
p.S45F
c.134C>T
3 papers
NM_000519.4
p.S45C
c.134C>G
1 paper
NM_000519.4
p.E44E
c.132G>A
1 paper
NM_000519.4
p.L49L
c.147G>C
1 paper
NM_000519.4
p.L49L
c.147G>A
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