Varaico: Literature-Extracted Genetic Variants

Gene:NEXN
Variant:p.E574D

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.E574D
c.1722A>C
Surrounding Variants
1 paper
NM_144573.4
p.E574D
c.1722A>T
5 papers
NM_144573.4
p.E575*
c.1723G>T
2 papers
NM_144573.4
p.E575G
c.1724A>G
2 papers
NM_144573.4
p.P582S
c.1744C>T
1 paper
NM_144573.4
p.W583R
c.1747T>A
1 paper
NM_144573.4
p.W583R
c.1747T>C
3 papers
NM_144573.4
p.K586del1
c.1756_1758delAAG
1 paper
NM_144573.4
p.S564fs
c.1690_1691fs
4 papers
NM_144573.4
p.K586*
c.1756A>T
1 paper
NM_144573.4
p.E561K
c.1681G>A
1 paper
NM_144573.4
p.L588_K589ins0
c.1764_1766dupTAA
1 paper
NM_144573.4
p.E562del1
c.1684_1685delGAA
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