Varaico: Literature-Extracted Genetic Variants

Gene:SYMPK
Variant:p.I588F

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.I588F
c.1762A>T
Surrounding Variants
1 paper
NM_004819.3
p.L600L
c.1800G>A
1 paper
NM_004819.3
p.E603D
c.1809G>T
1 paper
NM_004819.3
p.E603D
c.1809G>C
1 paper
NM_004819.3
p.R615H
c.1844G>A
1 paper
NM_004819.3
p.Q625delFs
c.1873delG
1 paper
NM_004819.3
p.Q625fs
c.1873_1874fs
1 paper
NM_004819.3
p.S638Y
c.1913C>A
1 paper
NM_004819.3
p.E643K
c.1927G>A
1 paper
NM_004819.3
p.A581S
c.1741G>T
1 paper
NM_004819.3
p.A575V
c.1724C>T
1 paper
NM_004819.3
p.E559K
c.1675G>A
1 paper
NM_004819.3
p.R545C
c.1633C>T
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."