Varaico: Literature-Extracted Genetic Variants

Gene:HBD
Variant:p.G70R

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
6 papers
NM_000519.4
p.G70R
c.208G>C
Surrounding Variants
2 papers
NM_000519.4
p.G70D
c.209G>A
2 papers
NM_000519.4
p.A71G
c.212C>G
1 paper
NM_000519.4
p.K67N
c.201G>C
1 paper
NM_000519.4
p.K67E
c.199A>G
3 papers
NM_000519.4
p.K66N
c.198G>T
2 papers
NM_000519.4
p.K66N
c.198G>C
1 paper
NM_000519.4
p.S73R
c.219T>A
1 paper
NM_000519.4
p.K66M
c.197A>T
1 paper
NM_000519.4
p.K66R
c.197A>G
1 paper
NM_000519.4
p.K66E
c.196A>G
3 papers
NM_000519.4
p.D74V
c.221A>T
1 paper
NM_000519.4
p.G75R
c.223G>C
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