Varaico: Literature-Extracted Genetic Variants

Gene:SYNE3
Variant:p.S345T

SYNE3

68 papers

Pfam Domains

Spectrin_SYNE1_2aa 329–441UCSCNesprin-1, spectrin repeats
Spectrinaa 648–746UCSCSpectrin repeat
SYNE3aa 808–890UCSCNesprin-3 domain
KASHaa 919–975UCSCNuclear envelope localisation domain

Gene Aliases

HGNC Name

spectrin repeat containing nuclear envelope family member 3

HGNC Previous Symbols

C14orf49; LINC00341; C14orf139; NCRNA00341

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_152592.6
p.S345T
c.1034G>C
Surrounding Variants
1 paper
NM_152592.6
p.S329S
c.987C>T
1 paper
NM_152592.6
p.R328W
c.982C>T
1 paper
NM_152592.6
p.E368K
c.1102G>A
2 papers
NM_152592.6
p.E321del1
c.961_962delCTC
1 paper
NM_152592.6
p.D369H
c.1105G>C
1 paper
NM_152592.6
p.E370E
c.1110G>A
1 paper
NM_152592.6
p.R288Q
c.863G>A
1 paper
NM_152592.6
p.V286I
c.856G>A
1 paper
NM_152592.6
p.A284A
c.852G>A
1 paper
NM_152592.6
p.H222Y
c.664C>T
1 paper
NM_152592.6
p.R211H
c.632G>A
1 paper
NM_152592.6
p.L385P
c.1154T>C
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."