Varaico: Literature-Extracted Genetic Variants

Gene:NEXN
Variant:p.E380K

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
1 paper
NM_144573.4
p.E380K
c.1138G>A
Surrounding Variants
5 papers
NM_144573.4
p.M386insFs
c.1156dupA
1 paper
NM_144573.4
p.Q384fs
c.1150_1151fs
1 paper
NM_144573.4
p.E375insFs
c.1124dupA
4 papers
NM_144573.4
p.M386fs
c.1156_1157fs
1 paper
NM_144573.4
p.M386fs
c.1156_1157fs
1 paper
NM_144573.4
p.E388*
c.1162G>T
7 papers
NM_144573.4
p.P371L
c.1112C>T
1 paper
NM_144573.4
p.K390E
c.1168A>G
5 papers
NM_144573.4
p.R391*
c.1171C>T
2 papers
NM_144573.4
p.R391Q
c.1172G>A
2 papers
NM_144573.4
p.F368L
c.1104T>A
2 papers
NM_144573.4
p.F368L
c.1104T>G
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."