Varaico: Literature-Extracted Genetic Variants

Gene:NEXN
Variant:p.R306H

NEXN

267 papers

RefSeq Summary

This gene encodes a filamentous actin-binding protein that may function in cell adhesion and migration. Mutations in this gene have been associated with dilated cardiomyopathy, also known as CMD1CC. A...

Pfam Domains

I-setaa 582–671UCSCImmunoglobulin I-set domain

Gene Aliases

HGNC Name

nexilin F-actin binding protein

HGNC Alias Symbols

nexilin; NELIN

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
6 papers
NM_144573.4
p.R306H
c.917G>A
Surrounding Variants
1 paper
NM_144573.4
p.R306S
c.916C>A
2 papers
NM_144573.4
p.R306C
c.916C>T
1 paper
NM_144573.4
p.P307T
c.919C>A
1 paper
NM_144573.4
p.Y305C
c.914A>G
1 paper
NM_144573.4
p.P307H
c.920C>A
1 paper
NM_144573.4
p.P307L
c.920C>T
1 paper
NM_144573.4
p.G304E
c.911G>A
1 paper
NM_144573.4
p.G304V
c.911G>T
1 paper
NM_144573.4
p.G304delFs
c.912delG
1 paper
NM_144573.4
p.F302L
c.906T>A
1 paper
NM_144573.4
p.F302L
c.906T>G
1 paper
NM_144573.4
p.F302L
c.904T>C
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