Varaico: Literature-Extracted Genetic Variants

Gene:NEXN
Variant:p.E651D

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.E651D
c.1953G>T
Surrounding Variants
1 paper
NM_144573.4
p.E651D
c.1953G>C
22 papers
NM_144573.4
p.Y652C
c.1955A>G
2 papers
NM_144573.4
p.E651fs
c.1951_1952fs
1 paper
NM_144573.4
p.M653V
c.1957A>G
2 papers
NM_144573.4
p.E651delFs
c.1952_1953delAG
17 papers
NM_144573.4
p.G650del1
c.1948_1949delGGA
2 papers
NM_144573.4
p.P646Q
c.1937C>A
1 paper
NM_144573.4
p.V657I
c.1969G>A
1 paper
NM_144573.4
p.F645L
c.1935C>A
1 paper
NM_144573.4
p.F645L
c.1935C>G
2 papers
NM_144573.4
p.N658I
c.1973A>T
1 paper
NM_144573.4
p.F645L
c.1933T>C
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