Varaico: Literature-Extracted Genetic Variants

Gene:ADD1
Variant:p.E411D

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.E411D
c.1233G>T
Surrounding Variants
1 paper
NM_001354761.2
p.E411D
c.1233G>C
1 paper
NM_001354761.2
p.E402G
c.1205A>G
1 paper
NM_001354761.2
p.R401*
c.1201A>T
1 paper
NM_001354761.2
p.L400L
c.1198C>T
1 paper
NM_001354761.2
p.P398P
c.1194T>A
1 paper
NM_001354761.2
p.P398L
c.1193C>T
1 paper
NM_001354761.2
p.G425S
c.1273G>A
3 papers
NM_001354761.2
p.S427L
c.1280C>T
1 paper
NM_001354761.2
p.R396*
c.1186C>T
9 papers
NM_001354761.2
p.Y389S
c.1166A>C
1 paper
NM_001354761.2
p.Q441*
c.1321C>T
2 papers
NM_001354761.2
p.R442W
c.1324C>T
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