Varaico: Literature-Extracted Genetic Variants

Gene:NEXN
Variant:p.E528del1

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
8 papers
NM_144573.4
p.E528del1
c.1582_1584delGAA
Surrounding Variants
2 papers
NM_144573.4
p.R524K
c.1571G>A
2 papers
NM_144573.4
p.E527_E528del0
c.1579_1584del6
2 papers
NM_144573.4
p.E528Q
c.1582G>C
1 paper
NM_144573.4
p.E528*
c.1582G>T
1 paper
NM_144573.4
p.Q529_R530del2
c.1585_1589del6
1 paper
NM_144573.4
p.Q529_R530del1
c.1587_1589delAAG
1 paper
NM_144573.4
p.R530delFs
c.1589_1590delGA
1 paper
NM_144573.4
p.R530fs
c.1588_1589fs
1 paper
NM_144573.4
p.F517Y
c.1550T>A
1 paper
NM_144573.4
p.K536delFs
c.1606_1607delAA
1 paper
NM_144573.4
p.Q535P
c.1604A>C
1 paper
NM_144573.4
p.K536fs
c.1606_1607fs
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