Varaico: Literature-Extracted Genetic Variants

Gene:NEXN
Variant:p.E430D

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
2 papers
NM_144573.4
p.E430D
c.1290A>T
Surrounding Variants
2 papers
NM_144573.4
p.E430D
c.1290A>C
1 paper
NM_144573.4
p.R429T
c.1286G>C
5 papers
NM_144573.4
p.L434delFs
c.1302delG
4 papers
NM_144573.4
p.I435fs
c.1303_1304fs
2 papers
NM_144573.4
p.E421*
c.1261G>T
2 papers
NM_144573.4
p.G441D
c.1322G>A
1 paper
NM_144573.4
p.S442C
c.1325C>G
1 paper
NM_144573.4
p.E417_E418Splc
c.1252-1G>A
1 paper
NM_144573.4
p.K454E
c.1360A>G
2 papers
NM_144573.4
p.G456R
c.1366G>A
2 papers
NM_144573.4
p.G456R
c.1366G>C
2 papers
NM_144573.4
p.K461_E462insA
c.1381_1385ins3
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."