Varaico: Literature-Extracted Genetic Variants

Gene:ADD1
Variant:p.T222S

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.T222S
c.664A>T
Surrounding Variants
1 paper
NM_001354761.2
p.T222S
c.665C>G
1 paper
NM_001354761.2
p.H224Y
c.670C>T
3 papers
NM_001354761.2
p.A226V
c.677C>T
1 paper
NM_001354761.2
p.Y228S
c.683A>C
1 paper
NM_001354761.2
p.R231C
c.691C>T
1 paper
NM_001354761.2
p.D233D
c.699C>T
1 paper
NM_001354761.2
p.V237I
c.709G>A
1 paper
NM_001354761.2
p.V237V
c.711C>T
1 paper
NM_001354761.2
p.V238M
c.712G>A
1 paper
NM_001354761.2
p.H239_I240del2
c.715_719del6
1 paper
NM_001354761.2
p.A244V
c.731C>T
1 paper
NM_001354761.2
p.A244delFs
c.732delA
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