Varaico: Literature-Extracted Genetic Variants

Gene:HBD
Variant:p.P59S

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.P59S
c.175C>T
Surrounding Variants
2 papers
NM_000519.4
p.N58K
c.174C>G
2 papers
NM_000519.4
p.N58K
c.174C>A
1 paper
NM_000519.4
p.K60R
c.179A>G
1 paper
NM_000519.4
p.K60N
c.180G>C
1 paper
NM_000519.4
p.G57D
c.170G>A
4 papers
NM_000519.4
p.K60delFs
c.179delT
1 paper
NM_000519.4
p.G57R
c.169G>C
1 paper
NM_000519.4
p.K60_V61insFs
c.180_181dupGG
1 paper
NM_000519.4
p.K62_A63insT
c.184_188ins3
1 paper
NM_000519.4
p.K62T
c.185A>C
1 paper
NM_000519.4
p.V55A
c.164T>C
1 paper
NM_000519.4
p.K62N
c.186G>T
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."