Varaico: Literature-Extracted Genetic Variants

Gene:NEXN
Variant:p.Q131E

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
11 papers
NM_144573.4
p.Q131E
c.391C>G
Surrounding Variants
4 papers
NM_144573.4
p.Q131R
c.392A>G
2 papers
NM_144573.4
p.D132H
c.394G>C
2 papers
NM_144573.4
p.D132V
c.395A>T
1 paper
NM_144573.4
p.D132E
c.396T>A
1 paper
NM_144573.4
p.D132E
c.396T>G
1 paper
NM_144573.4
p.L134_E135ins2
c.402_403ins6
1 paper
NM_144573.4
p.R127C
c.379C>T
2 papers
NM_144573.4
p.R125*
c.373C>T
1 paper
NM_144573.4
p.E124K
c.370G>A
1 paper
NM_144573.4
p.I139fs
c.415_416fs
1 paper
NM_144573.4
p.I139T
c.416T>C
1 paper
NM_144573.4
p.T121M
c.362C>T
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."