Varaico: Literature-Extracted Genetic Variants

Gene:YWHAE
Variant:p.K29R

YWHAE

87 papers

RefSeq Summary

This gene product belongs to the 14-3-3 family of proteins which mediate signal transduction by binding to phosphoserine-containing proteins. This highly conserved protein family is found in both plan...

Pfam Domains

14-3-3aa 10–232UCSC14-3-3 protein

Gene Aliases

HGNC Name

tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein epsilon

HGNC Alias Symbol

FLJ45465

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_006761.5
p.K29R
c.86A>G
Surrounding Variants
2 papers
NM_006761.5
p.D34N
c.100G>A
1 paper
NM_006761.5
p.E22Splc
c.65-1G>T
1 paper
NM_006761.5
p.V39A
c.116T>C
1 paper
NM_006761.5
p.E40G
c.119A>G
1 paper
NM_006761.5
p.R42*
c.124A>T
1 paper
NM_006761.5
p.A48T
c.142G>A
1 paper
NM_006761.5
p.K50Q
c.148A>C
1 paper
NM_006761.5
p.I53insFs
c.158_159insTT
1 paper
NM_006761.5
p.G54insFs
c.162dupA
1 paper
NM_006761.5
p.R57G
c.169A>G
1 paper
NM_006761.5
p.A58V
c.173C>T
1 paper
NM_006761.5
p.W60*
c.179G>A
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