Varaico: Literature-Extracted Genetic Variants

Gene:NEXN
Variant:p.Q406*

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.Q406*
c.1216C>T
Surrounding Variants
1 paper
NM_144573.4
p.E402_M403ins6
c.1204_1208ins18
1 paper
NM_144573.4
p.L411V
c.1231C>G
2 papers
NM_144573.4
p.K400E
c.1198A>G
1 paper
NM_144573.4
p.R412G
c.1234A>G
1 paper
NM_144573.4
p.Q413*
c.1237C>T
2 papers
NM_144573.4
p.Q413R
c.1238A>G
2 papers
NM_144573.4
p.E414D
c.1242A>C
2 papers
NM_144573.4
p.E414D
c.1242A>T
3 papers
NM_144573.4
p.R397Q
c.1190G>A
1 paper
NM_144573.4
p.R397W
c.1189C>T
1 paper
NM_144573.4
p.G416R
c.1246G>A
1 paper
NM_144573.4
p.G416R
c.1246G>C
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