Varaico: Literature-Extracted Genetic Variants

Gene:NEXN
Variant:p.E485K

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
7 papers
NM_144573.4
p.E485K
c.1453G>A
Surrounding Variants
2 papers
NM_144573.4
p.A486G
c.1457C>G
1 paper
NM_144573.4
p.N488I
c.1463A>T
1 paper
NM_144573.4
p.E480*
c.1438G>T
1 paper
NM_001172309.2
p.L415H
c.1244T>A
2 papers
NM_144573.4
p.L479F
c.1435C>T
2 papers
NM_144573.4
p.E491_E492Splc
c.1473+1G>T
3 papers
NM_144573.4
p.A476P
c.1426G>C
1 paper
NM_144573.4
p.R475K
c.1424G>A
3 papers
NM_144573.4
p.R475del1
c.1423_1424delAGA
1 paper
NM_144573.4
p.R473R
c.1419A>G
1 paper
NM_144573.4
p.A472G
c.1415C>G
2 papers
NM_144573.4
p.R473_R474del1
c.1419_1421delAAG
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