Varaico: Literature-Extracted Genetic Variants

Gene:NEXN
Variant:p.L551P

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.L551P
c.1652T>C
Surrounding Variants
1 paper
NM_001172309.2
p.I483T
c.1448T>C
1 paper
NM_144573.4
p.R545K
c.1634G>A
1 paper
NM_144573.4
p.Q541Q
c.1623G>A
2 papers
NM_144573.4
p.M540V
c.1618A>G
1 paper
NM_144573.4
p.R539H
c.1616G>A
1 paper
NM_144573.4
p.L537S
c.1610T>C
2 papers
NM_144573.4
p.L537insFs
c.1609_1610insA
1 paper
NM_144573.4
p.K536fs
c.1606_1607fs
1 paper
NM_144573.4
p.K536fs
c.1606_1607fs
1 paper
NM_144573.4
p.Q535P
c.1604A>C
1 paper
NM_144573.4
p.K536delFs
c.1606_1607delAA
1 paper
NM_144573.4
p.R530fs
c.1588_1589fs
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