Varaico: Literature-Extracted Genetic Variants

Gene:YWHAQ
Variant:p.K49E

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
9 papers
NM_006826.4
p.K49E
c.145A>G
Surrounding Variants
1 paper
NM_006826.4
p.K49Q
c.145A>C
2 papers
NM_006826.4
p.K49R
c.146A>G
1 paper
NM_006826.4
p.A47delFs
c.139delC
1 paper
NM_006826.4
p.G53R
c.157G>C
1 paper
NM_006826.4
p.G53R
c.157G>A
1 paper
NM_006826.4
p.G53E
c.158G>A
1 paper
NM_006826.4
p.N42I
c.125A>T
1 paper
NM_006826.4
p.N42S
c.125A>G
1 paper
NM_006826.4
p.R41C
c.121C>T
1 paper
NM_006826.4
p.W59*
c.176G>A
3 papers
NM_006826.4
p.R60W
c.178A>T
1 paper
NM_006826.4
p.N38D
c.112A>G
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