Varaico: Literature-Extracted Genetic Variants

Gene:NEXN
Variant:p.R256Q

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
3 papers
NM_144573.4
p.R256Q
c.767G>A
Surrounding Variants
1 paper
NM_144573.4
p.N261insFs
c.781_782insT
2 papers
NM_144573.4
p.R262*
c.784C>T
2 papers
NM_144573.4
p.K263insFs
c.787dupA
2 papers
NM_144573.4
p.K263_K264delFs
c.789_790delGA
2 papers
NM_144573.4
p.K264fs
c.790_791fs
1 paper
NM_144573.4
p.Q265*
c.793C>T
16 papers
NM_144573.4
p.G245R
c.733G>A
15 papers
NM_144573.4
p.G245R
c.733G>C
1 paper
NM_144573.4
p.P244P
c.732C>T
3 papers
NM_144573.4
p.E268A
c.803A>C
1 paper
NM_144573.4
p.E268D
c.804G>C
1 paper
NM_144573.4
p.E268D
c.804G>T
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