Varaico: Literature-Extracted Genetic Variants

Gene:SYNE4
Variant:p.G12delFs

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
Selected Variant
1 paper
NM_001039876.3
p.G12delFs
c.35delC
Surrounding Variants
1 paper
NM_001039876.3
p.G38R
c.112G>C
1 paper
NM_001039876.3
p.G38R
c.112G>A
1 paper
NM_001039876.3
p.S43Splc
c.129-1G>T
1 paper
NM_001039876.3
p.P75L
c.224C>T
1 paper
NM_001039876.3
p.P75P
c.225G>A
1 paper
NM_001039876.3
p.R76_W77delFs
c.228_229delAT
1 paper
NM_001039876.3
p.D85_A87insFs
c.253_259dup7
1 paper
NM_001039876.3
p.E105Q
c.313G>C
2 papers
NM_001039876.3
p.Q106P
c.317A>C
1 paper
NM_001039876.3
p.N107D
c.319A>G
1 paper
NM_001039876.3
p.C112*
c.336C>A
1 paper
NM_001039876.3
p.R118H
c.353G>A
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