Varaico: Literature-Extracted Genetic Variants

Gene:NEXN
Variant:p.E318A

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
2 papers
NM_144573.4
p.E318A
c.953A>C
Surrounding Variants
2 papers
NM_144573.4
p.M317T
c.950T>C
2 papers
NM_144573.4
p.Q320Fs
c.958delinsCAFs
1 paper
NM_144573.4
p.Q320fs
c.958_959fs
1 paper
NM_144573.4
p.E323G
c.968A>G
2 papers
NM_144573.4
p.R327insFs
c.979dupA
1 paper
NM_144573.4
p.E325insFs
c.973_974insT
1 paper
NM_144573.4
p.P307H
c.920C>A
1 paper
NM_144573.4
p.A329E
c.986C>A
1 paper
NM_144573.4
p.P307L
c.920C>T
2 papers
NM_144573.4
p.E332del1
c.994_995delGAA
1 paper
NM_144573.4
p.P307T
c.919C>A
6 papers
NM_144573.4
p.R306H
c.917G>A
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