Varaico: Literature-Extracted Genetic Variants

Gene:ADD1
Variant:p.P15P

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.P15P
c.45G>T
Surrounding Variants
1 paper
NM_001354761.2
p.T17A
c.49A>G
1 paper
NM_001354761.2
p.H20L
c.59A>T
1 paper
NM_001354761.2
p.K21E
c.61A>G
1 paper
NM_001354761.2
p.A8V
c.23C>T
5 papers
NM_001354761.2
p.R6C
c.16C>T
2 papers
NM_001354761.2
p.M1V
c.1A>G
2 papers
NM_001354761.2
p.N31N
c.93C>T
1 paper
NM_001354761.2
p.L45F
c.133C>T
1 paper
NM_001354761.2
p.R46C
c.136C>T
1 paper
NM_001354761.2
p.D48insFs
c.143dupA
1 paper
NM_001354761.2
p.F49F
c.147C>T
1 paper
NM_001354761.2
p.Q54K
c.160C>A
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