Varaico: Literature-Extracted Genetic Variants

Gene:HBD
Variant:p.R105_L106Splc

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.R105_L106Splc
c.315+2T>G
Surrounding Variants
4 papers
NM_000519.4
p.R105_L106Splc
c.315+1G>A
2 papers
NM_000519.4
p.R105S
c.315G>T
2 papers
NM_000519.4
p.R105S
c.315G>C
1 paper
NM_000519.4
p.R105K
c.314G>A
1 paper
NM_000519.4
p.R105_L106Splc
c.315+6T>A
1 paper
NM_000519.4
p.N103delFs
c.308delT
1 paper
NM_000519.4
p.R105_L106Splc
c.315+12A>G
1 paper
NM_000519.4
p.P101L
c.302C>T
1 paper
NM_000519.4
p.P101H
c.302C>A
12 papers
NM_000519.4
p.P101S
c.301C>T
3 papers
NM_000519.4
p.D100G
c.299A>G
8 papers
NM_000519.4
p.V99M
c.295G>A
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