Varaico: Literature-Extracted Genetic Variants

Gene:ADD1
Variant:p.K482K

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.K482K
c.1446A>G
Surrounding Variants
1 paper
NM_001354761.2
p.V481M
c.1441G>A
1 paper
NM_001354761.2
p.S489L
c.1466C>T
1 paper
NM_001354761.2
p.W473*
c.1419G>A
1 paper
NM_001354761.2
p.W473*
c.1418G>A
1 paper
NM_001354761.2
p.C493S
c.1477T>A
1 paper
NM_001354761.2
p.K469E
c.1405A>G
1 paper
NM_001354761.2
p.P466L
c.1397C>T
1 paper
NM_001354761.2
p.G460E
c.1379G>A
2 papers
NM_001354761.2
p.G460R
c.1378G>A
2 papers
NM_001354761.2
p.G460R
c.1378G>C
306 papers
NM_001354761.2
p.G460W
c.1378G>T
1 paper
NM_001354761.2
p.D454D
c.1362C>T
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."