Varaico: Literature-Extracted Genetic Variants

Gene:SYMPK
Variant:p.T458R

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.T458R
c.1373C>G
Surrounding Variants
1 paper
NM_004819.3
p.T395S
c.1183A>T
1 paper
NM_004819.3
p.S380S
c.1140G>A
1 paper
NM_004819.3
p.S380L
c.1139C>T
1 paper
NM_004819.3
p.E475A
c.1424A>C
1 paper
NM_004819.3
p.V487I
c.1459G>A
1 paper
NM_004819.3
p.P511L
c.1532C>T
1 paper
NM_004819.3
p.P511P
c.1533C>A
1 paper
NM_004819.3
p.R545C
c.1633C>T
1 paper
NM_004819.3
p.E559K
c.1675G>A
1 paper
NM_004819.3
p.A575V
c.1724C>T
1 paper
NM_004819.3
p.A581S
c.1741G>T
1 paper
NM_004819.3
p.I588F
c.1762A>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."