Varaico: Literature-Extracted Genetic Variants

Gene:NEXN
Variant:p.E504D

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.E504D
c.1512G>T
Surrounding Variants
1 paper
NM_144573.4
p.E504D
c.1512G>C
1 paper
NM_144573.4
p.A505P
c.1513G>C
1 paper
NM_144573.4
p.S503fs
c.1507_1508fs
1 paper
NM_144573.4
p.S503delFs
c.1507delA
1 paper
NM_001172309.2
p.R434delFs
c.1302delG
1 paper
NM_144573.4
p.V511E
c.1532T>A
1 paper
NM_144573.4
p.D496Y
c.1486G>T
1 paper
NM_144573.4
p.V495I
c.1483G>A
2 papers
NM_144573.4
p.D494V
c.1481A>T
1 paper
NM_144573.4
p.F517Y
c.1550T>A
2 papers
NM_144573.4
p.R524K
c.1571G>A
8 papers
NM_144573.4
p.E528del1
c.1582_1584delGAA
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