Varaico: Literature-Extracted Genetic Variants

Gene:SYNE4
Variant:p.A156E

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.A156E
c.467C>A
Surrounding Variants
1 paper
NM_001039876.3
p.A156V
c.467C>T
1 paper
NM_001039876.3
p.R153H
c.458G>A
1 paper
NM_001039876.3
p.R153C
c.457C>T
1 paper
NM_001039876.3
p.E152K
c.454G>A
1 paper
NM_001039876.3
p.G149G
c.447G>A
1 paper
NM_001039876.3
p.R148Q
c.443G>A
1 paper
NM_001039876.3
p.R167Q
c.500G>A
1 paper
NM_001039876.3
p.V145M
c.433G>A
2 papers
NM_001039876.3
p.R187*
c.559C>T
1 paper
NM_001039876.3
p.R193W
c.577C>T
1 paper
NM_001039876.3
p.T213M
c.638C>T
2 papers
NM_001039876.3
p.S224L
c.671C>T
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