Varaico: Literature-Extracted Genetic Variants

Gene:ADD1

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
1–12 of 143 variants
306 papers
NM_001354761.2
p.G460W
c.1378G>T
9 papers
NM_001354761.2
p.Y389S
c.1166A>C
8 papers
NM_001354761.2
p.G275G
c.825C>T
5 papers
NM_001354761.2
p.R6C
c.16C>T
4 papers
NM_001354761.2
p.Y270N
c.808T>A
4 papers
NM_001354761.2
p.K536_I537Splc
c.1608+386A>G
4 papers
NM_001354761.2
p.T586S
c.1757C>G
3 papers
NM_001354761.2
p.P85P
c.255C>T
3 papers
NM_001354761.2
p.A115V
c.344C>T
3 papers
NM_001354761.2
p.A226V
c.677C>T
3 papers
NM_001354761.2
p.S427L
c.1280C>T
2 papers
NM_001354761.2
p.M1V
c.1A>G
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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."