Varaico: Literature-Extracted Genetic Variants

Gene:HBD
Variant:p.M1I

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.M1I
c.3G>C
Surrounding Variants
3 papers
NM_000519.4
p.M1I
c.3G>T
4 papers
NM_000519.4
p.M1I
c.3G>A
1 paper
NM_000519.4
p.M1R
c.2T>G
1 paper
NM_000519.4
p.M1T
c.2T>C
1 paper
NM_000519.4
p.V2L
c.4G>T
1 paper
NM_000519.4
p.V2A
c.5T>C
1 paper
NM_000519.4
p.V2delins
c.5delinsAGAA
1 paper
NM_000519.4
p.M1V
c.1A>G
1 paper
NM_000519.4
p.M1L
c.1A>C
1 paper
NM_000519.4
p.V2V
c.6G>C
2 papers
NM_000519.4
p.H3Y
c.7C>T
3 papers
NM_000519.4
p.H3N
c.7C>A
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