Varaico: Literature-Extracted Genetic Variants

Gene:ADD1
Variant:p.G460R

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.G460R
c.1378G>C
Surrounding Variants
2 papers
NM_001354761.2
p.G460R
c.1378G>A
306 papers
NM_001354761.2
p.G460W
c.1378G>T
1 paper
NM_001354761.2
p.G460E
c.1379G>A
1 paper
NM_001354761.2
p.D454D
c.1362C>T
1 paper
NM_001354761.2
p.P466L
c.1397C>T
1 paper
NM_001354761.2
p.R452W
c.1354C>T
1 paper
NM_001354761.2
p.K469E
c.1405A>G
1 paper
NM_001354761.2
p.S450C
c.1349C>G
2 papers
NM_001354761.2
p.L448P
c.1343T>C
1 paper
NM_001354761.2
p.W473*
c.1418G>A
1 paper
NM_001354761.2
p.W473*
c.1419G>A
1 paper
NM_001354761.2
p.T445A
c.1333A>G
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