Varaico: Literature-Extracted Genetic Variants

Gene:SYNC
Variant:p.P458L

SYNC

84 papers

RefSeq Summary

This gene encodes a member of the intermediate filament family which contains an N-terminal head domain, followed by a central coiled-coil region and a short C-terminal tail. The protein is highly exp...

Pfam Domains

Filamentaa 168–459UCSCIntermediate filament protein

Gene Aliases

HGNC Name

syncoilin, intermediate filament protein

HGNC Previous Symbol

SYNC1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_030786.3
p.P458L
c.1373C>T
Surrounding Variants
1 paper
NM_030786.3
p.P458S
c.1372C>T
1 paper
NM_030786.3
p.S460I
c.1379G>T
1 paper
NM_030786.3
p.L461_E462ins7
c.1381_1385ins21
1 paper
NM_030786.3
p.E462K
c.1384G>A
1 paper
NM_030786.3
p.A464D
c.1391C>A
1 paper
NM_030786.3
p.A471T
c.1411G>A
1 paper
NM_030786.3
p.T476R
c.1427C>G
1 paper
NM_030786.3
p.K453Splc
c.1358+1G>A
1 paper
NM_030786.3
p.E448V
c.1343A>T
1 paper
NM_030786.3
p.E439K
c.1315G>A
1 paper
NM_030786.3
p.E419K
c.1255G>A
1 paper
NM_030786.3
p.R411_E412Splc
c.1234-1G>A
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."