Varaico: Literature-Extracted Genetic Variants

Gene:NEXN
Variant:p.E470Q

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
5 papers
NM_144573.4
p.E470Q
c.1408G>C
Surrounding Variants
2 papers
NM_144573.4
p.E470del1
c.1408_1409delGAG
1 paper
NM_144573.4
p.A472G
c.1415C>G
2 papers
NM_144573.4
p.R473_R474del1
c.1419_1421delAAG
5 papers
NM_144573.4
p.E468del1
c.1402_1403delGAA
1 paper
NM_001172309.2
p.I403fs
c.1207_1208fs
1 paper
NM_144573.4
p.R473R
c.1419A>G
1 paper
NM_144573.4
p.I467del1
c.1399_1400delATA
3 papers
NM_144573.4
p.K466Q
c.1396A>C
3 papers
NM_144573.4
p.R475del1
c.1423_1424delAGA
1 paper
NM_144573.4
p.K465_K466insGCG
c.1393_1397ins9
1 paper
NM_144573.4
p.R475K
c.1424G>A
2 papers
NM_144573.4
p.I467delFs
c.1399delA
NM_001172309.2
p.K401delFs
c.1201delA
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