Varaico: Literature-Extracted Genetic Variants

Gene:HBD
Variant:p.P6S

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.P6S
c.16C>T
Surrounding Variants
1 paper
NM_000519.4
p.P6A
c.16C>G
1 paper
NM_000519.4
p.P6T
c.16C>A
2 papers
NM_000519.4
p.P6L
c.17C>T
1 paper
NM_000519.4
p.P6R
c.17C>G
1 paper
NM_000519.4
p.P6P
c.18T>G
1 paper
NM_000519.4
p.P6P
c.18T>C
1 paper
NM_000519.4
p.P6P
c.18T>A
15 papers
NM_000519.4
p.T5I
c.14C>T
2 papers
NM_000519.4
p.T5S
c.14C>G
1 paper
NM_000519.4
p.E7Q
c.19G>C
2 papers
NM_000519.4
p.E7K
c.19G>A
2 papers
NM_000519.4
p.P6delFs
c.17_18delAG
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