Varaico: Literature-Extracted Genetic Variants

Gene:HBD
Variant:p.N13K

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
9 papers
NM_000519.4
p.N13K
c.39T>A
Surrounding Variants
4 papers
NM_000519.4
p.N13K
c.39T>G
2 papers
NM_000519.4
p.A14D
c.41C>A
2 papers
NM_000519.4
p.V12G
c.35T>G
1 paper
NM_000519.4
p.V12A
c.35T>C
1 paper
NM_000519.4
p.L4_A11delFs
c.12_33del22
2 papers
NM_000519.4
p.L15P
c.44T>C
1 paper
NM_000519.4
p.W16R
c.46T>C
3 papers
NM_000519.4
p.A11V
c.32C>T
1 paper
NM_000519.4
p.A11D
c.32C>A
5 papers
NM_000519.4
p.A11delFs
c.31delC
1 paper
NM_000519.4
p.A11P
c.31G>C
3 papers
NM_000519.4
p.W16*
c.47G>A
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