Varaico: Literature-Extracted Genetic Variants

Gene:YWHAQ
Variant:p.Q140Splc

YWHAQ

587 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 9–229UCSC14-3-3 protein

Gene Aliases

HGNC Name

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

HGNC Alias Symbols

HS1; 14-3-3

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_006826.4
p.Q140Splc
c.418+2T>C
Surrounding Variants
1 paper
NM_006826.4
p.D136E
c.408T>G
1 paper
NM_006826.4
p.A133V
c.398C>T
1 paper
NM_006826.4
p.E131A
c.392A>C
1 paper
NM_006826.4
p.F126L
c.378C>A
2 papers
NM_006826.4
p.Y125F
c.374A>T
2 papers
NM_006826.4
p.D124A
c.371A>C
2 papers
NM_006826.4
p.K120R
c.359A>G
1 paper
NM_006826.4
p.Y118F
c.353A>T
1 paper
NM_006826.4
p.V116I
c.346G>A
1 paper
NM_006826.4
p.K115R
c.344A>G
1 paper
NM_006826.4
p.S114T
c.341G>C
1 paper
NM_006826.4
p.P112L
c.335C>T
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