Varaico: Literature-Extracted Genetic Variants

Gene:NEXN
Variant:p.E275E

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.E275E
c.825A>G
Surrounding Variants
2 papers
NM_144573.4
p.E276K
c.826G>A
2 papers
NM_144573.4
p.K278R
c.833A>G
5 papers
NM_144573.4
p.R279S
c.835C>A
17 papers
NM_144573.4
p.R279C
c.835C>T
NM_001172309.2
p.R215C
c.643C>T
1 paper
NM_144573.4
p.E282K
c.844G>A
1 paper
NM_144573.4
p.E268D
c.804G>C
1 paper
NM_144573.4
p.E268D
c.804G>T
3 papers
NM_144573.4
p.E268A
c.803A>C
1 paper
NM_144573.4
p.Q265*
c.793C>T
2 papers
NM_144573.4
p.Q287R
c.860A>G
2 papers
NM_144573.4
p.K264fs
c.790_791fs
2 papers
NM_144573.4
p.K263_K264delFs
c.789_790delGA
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