Varaico: Literature-Extracted Genetic Variants

Gene:SYMPK
Variant:p.G4insFs

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.G4insFs
c.12dupC
Surrounding Variants
1 paper
NM_004819.3
p.G4G
c.12C>T
1 paper
NM_004819.3
p.M1T
c.2T>C
1 paper
NM_004819.3
p.F19fs
c.55_56fs
1 paper
NM_004819.3
p.I27I
c.81C>T
1 paper
NM_004819.3
p.R35delFs
c.103_104delCT
1 paper
NM_004819.3
p.I46N
c.137T>A
1 paper
NM_004819.3
p.D66A
c.197A>C
1 paper
NM_004819.3
p.K84M
c.251A>T
1 paper
NM_004819.3
p.R148W
c.442C>T
1 paper
NM_004819.3
p.A163V
c.488C>T
1 paper
NM_004819.3
p.A165A
c.495G>T
1 paper
NM_004819.3
p.G166_D167insFs
c.498_499insC
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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."