Varaico: Literature-Extracted Genetic Variants

Gene:ADD1
Variant:p.H302R

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
1 paper
NM_001354761.2
p.H302R
c.905A>G
Surrounding Variants
1 paper
NM_001354761.2
p.G303R
c.907G>A
1 paper
NM_001354761.2
p.L304F
c.910C>T
1 paper
NM_001354761.2
p.R300W
c.898C>T
1 paper
NM_001354761.2
p.V305G
c.914T>G
1 paper
NM_001354761.2
p.I298fs
c.892_893fs
1 paper
NM_001354761.2
p.V307L
c.919G>C
2 papers
NM_001354761.2
p.L297F
c.889C>T
1 paper
NM_001354761.2
p.G308A
c.923G>C
2 papers
NM_001354761.2
p.Y316F
c.947A>T
1 paper
NM_001354761.2
p.A324S
c.970G>T
1 paper
NM_001354761.2
p.Q328R
c.983A>G
1 paper
NM_001354761.2
p.G291G
c.873G>A
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