Varaico: Literature-Extracted Genetic Variants

Gene:HBD
Variant:p.F42L

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
2 papers
NM_000519.4
p.F42L
c.124T>C
Surrounding Variants
1 paper
NM_000519.4
p.R41S
c.123G>T
1 paper
NM_000519.4
p.F43V
c.127T>G
26 papers
NM_000519.4
p.F43L
c.127T>C
1 paper
NM_000519.4
p.F43I
c.127T>A
1 paper
NM_000519.4
p.F43S
c.128T>C
1 paper
NM_000519.4
p.F43L
c.129T>G
1 paper
NM_000519.4
p.F43L
c.129T>A
15 papers
NM_000519.4
p.E44K
c.130G>A
1 paper
NM_000519.4
p.F42_F43delFs
c.126_129del4
12 papers
NM_000519.4
p.Q40*
c.118C>T
1 paper
NM_000519.4
p.Q40K
c.118C>A
1 paper
NM_000519.4
p.T39_Q40delins
c.117_118delinsTA
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."