Varaico: Literature-Extracted Genetic Variants

Gene:SYNE4
Variant:p.Q106P

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
2 papers
NM_001039876.3
p.Q106P
c.317A>C
Surrounding Variants
1 paper
NM_001039876.3
p.N107D
c.319A>G
1 paper
NM_001039876.3
p.E105Q
c.313G>C
1 paper
NM_001039876.3
p.C112*
c.336C>A
1 paper
NM_001039876.3
p.R118H
c.353G>A
1 paper
NM_001039876.3
p.R119W
c.355C>T
1 paper
NM_001039876.3
p.V145M
c.433G>A
1 paper
NM_001039876.3
p.R148Q
c.443G>A
1 paper
NM_001039876.3
p.G149G
c.447G>A
1 paper
NM_001039876.3
p.E152K
c.454G>A
1 paper
NM_001039876.3
p.R153C
c.457C>T
1 paper
NM_001039876.3
p.R153H
c.458G>A
1 paper
NM_001039876.3
p.A156V
c.467C>T
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