Varaico: Literature-Extracted Genetic Variants

Gene:SYNE4

SYNE4

50 papers

RefSeq Summary

This gene is a member of the nesprin family of genes, that encode KASH (Klarsicht, Anc-1, Syne Homology) domain-containing proteins. In addition to the KASH domain, this protein also contains a coiled...

Pfam Domains

KASHaa 348–404UCSCNuclear envelope localisation domain

Gene Aliases

HGNC Name

spectrin repeat containing nuclear envelope family member 4

HGNC Previous Symbols

C19orf46; DFNB76

Papers
RefSeq ID
Protein change
DNA change
1–12 of 46 variants
4 papers
NM_001039876.3
p.W233*
c.699G>A
3 papers
NM_001039876.3
p.W233*
c.698G>A
2 papers
NM_001039876.3
p.Q106P
c.317A>C
2 papers
NM_001039876.3
p.R187*
c.559C>T
2 papers
NM_001039876.3
p.S224L
c.671C>T
2 papers
NM_001039876.3
p.G231E
c.692G>A
2 papers
NM_001039876.3
p.P251L
c.752C>T
2 papers
NM_001039876.3
p.I255T
c.764T>C
2 papers
NM_001039876.3
p.R321Q
c.962G>A
1 paper
NM_001039876.3
p.G12delFs
c.35delC
1 paper
NM_001039876.3
p.G38R
c.112G>C
1 paper
NM_001039876.3
p.G38R
c.112G>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."