Varaico: Literature-Extracted Genetic Variants

Gene:ADD1
Variant:p.D129G

ADD1

433 papers

RefSeq Summary

Adducins are a family of cytoskeletal proteins encoded by three genes (alpha, beta, and gamma). Adducin acts as a heterodimer of the related alpha, beta, or gamma subunits. The protein encoded by this...

Pfam Domains

Aldolase_IIaa 147–329UCSCClass II Aldolase and Adducin N-terminal domain

Gene Aliases

HGNC Name

adducin 1

HGNC Previous Name

adducin 1 (alpha)

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_001354761.2
p.D129G
c.386A>G
Surrounding Variants
1 paper
NM_001354761.2
p.L149M
c.445T>A
1 paper
NM_001354761.2
p.A151V
c.452C>T
3 papers
NM_001354761.2
p.A115V
c.344C>T
1 paper
NM_001354761.2
p.P110P
c.330G>T
1 paper
NM_001354761.2
p.P110L
c.329C>T
1 paper
NM_001354761.2
p.Q92H
c.276G>T
3 papers
NM_001354761.2
p.P85P
c.255C>T
1 paper
NM_001354761.2
p.I75K
c.224T>A
1 paper
NM_001354761.2
p.E72K
c.214G>A
1 paper
NM_001354761.2
p.F67F
c.201C>T
1 paper
NM_001354761.2
p.S64N
c.191G>A
1 paper
NM_001354761.2
p.L62L
c.186G>A
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