Varaico: Literature-Extracted Genetic Variants

Gene:SYNE3

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
1–12 of 77 variants
3 papers
NM_152592.6
p.T668M
c.2003C>T
2 papers
NM_152592.6
p.E321del1
c.961_962delCTC
2 papers
NM_152592.6
p.K700N
c.2100G>T
2 papers
NM_152592.6
p.K700N
c.2100G>C
2 papers
NM_152592.6
p.L795del1
c.2383_2384delAAG
1 paper
NM_152592.6
p.M1_Q3del0
c.1_9del9
1 paper
NM_152592.6
p.Q6del1
c.16_18delCTG
1 paper
NM_152592.6
p.M1_F9del9
c.1_26del27
1 paper
NM_152592.6
p.A16_A18del3
c.46_53del9
1 paper
NM_152592.6
p.A42S
c.124G>T
1 paper
NM_152592.6
p.E56*
c.166G>T
1 paper
NM_152592.6
p.E56K
c.166G>A
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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."