Varaico: Literature-Extracted Genetic Variants

Gene:ADD1
Variant:p.D279D

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.D279D
c.837T>C
Surrounding Variants
1 paper
NM_001354761.2
p.E281fs
c.841_842fs
8 papers
NM_001354761.2
p.G275G
c.825C>T
1 paper
NM_001354761.2
p.Y273Y
c.819C>T
1 paper
NM_001354761.2
p.H271R
c.812A>G
4 papers
NM_001354761.2
p.Y270N
c.808T>A
1 paper
NM_001354761.2
p.L290P
c.869T>C
1 paper
NM_001354761.2
p.G291G
c.873G>A
1 paper
NM_001354761.2
p.A247_V248Splc
c.742-18C>T
2 papers
NM_001354761.2
p.L297F
c.889C>T
1 paper
NM_001354761.2
p.I298fs
c.892_893fs
1 paper
NM_001354761.2
p.R300W
c.898C>T
1 paper
NM_001354761.2
p.H302R
c.905A>G
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