Varaico: Literature-Extracted Genetic Variants

Gene:SYMPK
Variant:p.P246P

SYMPK

91 papers

RefSeq Summary

This gene encodes a nuclear protein that functions in the regulation of polyadenylation and promotes gene expression. The protein forms a high-molecular weight complex with components of the polyadeny...

Pfam Domains

SYMPK_PTA1_Naa 122–348UCSCSymplekin/PTA1 N-terminal
Symplekin_Caa 887–1068UCSCSymplekin tight junction protein C terminal

Gene Aliases

HGNC Name

symplekin scaffold protein

HGNC Alias Symbols

SYM; SPK; Pta1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_004819.3
p.P246P
c.738T>A
Surrounding Variants
1 paper
NM_004819.3
p.A247T
c.739G>A
1 paper
NM_004819.3
p.L228delFs
c.683delA
1 paper
NM_004819.3
p.V274A
c.821T>C
1 paper
NM_004819.3
p.Y278H
c.832T>C
1 paper
NM_004819.3
p.R298C
c.892C>T
1 paper
NM_004819.3
p.P312L
c.935C>T
1 paper
NM_004819.3
p.S314F
c.941C>T
1 paper
NM_004819.3
p.L324L
c.972G>T
1 paper
NM_004819.3
p.H209R
c.626A>G
1 paper
NM_004819.3
p.V192insFs
c.575_576dupTC
1 paper
NM_004819.3
p.G166_D167insFs
c.498_499insC
1 paper
NM_004819.3
p.A165A
c.495G>T
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."