Varaico: Literature-Extracted Genetic Variants

Gene:ADD1
Variant:p.S514S

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.S514S
c.1542T>C
Surrounding Variants
1 paper
NM_001354761.2
p.T513T
c.1539C>T
1 paper
NM_001354761.2
p.T504S
c.1510A>T
1 paper
NM_001354761.2
p.P527P
c.1581A>G
1 paper
NM_001354761.2
p.N535Y
c.1603A>T
1 paper
NM_001354761.2
p.K536_I537Splc
c.1608+4C>T
4 papers
NM_001354761.2
p.K536_I537Splc
c.1608+386A>G
1 paper
NM_001354761.2
p.N541I
c.1622A>T
1 paper
NM_001354761.2
p.V559M
c.1675G>A
1 paper
NM_001354761.2
p.V565L
c.1693G>C
4 papers
NM_001354761.2
p.T586S
c.1757C>G
1 paper
NM_001354761.2
p.F595L
c.1783T>C
1 paper
NM_001354761.2
p.C493S
c.1477T>A
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