Varaico: Literature-Extracted Genetic Variants

Gene:NEXN
Variant:p.E83D

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.E83D
c.249G>C
Surrounding Variants
2 papers
NM_144573.4
p.E83D
c.249G>T
1 paper
NM_144573.4
p.E84K
c.250G>A
2 papers
NM_144573.4
p.K89*
c.265A>T
1 paper
NM_144573.4
p.I74L
c.220A>C
1 paper
NM_144573.4
p.K97R
c.290A>G
2 papers
NM_144573.4
p.G100*
c.298G>T
1 paper
NM_144573.4
p.G100Splc
c.299-3T>C
1 paper
NM_144573.4
p.G100Splc
c.299-1G>C
2 papers
NM_144573.4
p.G104V
c.311G>T
1 paper
NM_144573.4
p.A107V
c.320C>T
4 papers
NM_144573.4
p.E110Q
c.328G>C
1 paper
NM_144573.4
p.K111N
c.333A>T
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."