Varaico: Literature-Extracted Genetic Variants

Gene:NDE1
Variant:p.L245insFs

NDE1

119 papers

RefSeq Summary

This gene encodes a member of the nuclear distribution E (NudE) family of proteins. The encoded protein is localized at the centrosome and interacts with other centrosome components as part of a multi...

Pfam Domains

NUDE_Caa 134–310UCSCNUDE protein, C-terminal conserved region

Gene Aliases

HGNC Name

nudE neurodevelopment protein 1

HGNC Alias Symbols

nudE; FLJ20101

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
7 papers
NM_017668.3
p.L245insFs
c.733dupC
Surrounding Variants
2 papers
NM_017668.3
p.T243fs
c.727_728fs
1 paper
NM_017668.3
p.T243N
c.728C>A
1 paper
NM_017668.3
p.P244S
c.730C>T
3 papers
NM_017668.3
p.L245fs
c.733_734fs
1 paper
NM_017668.3
p.G242delFs
c.726delG
2 papers
NM_017668.3
p.T246A
c.736A>G
1 paper
NM_017668.3
p.A248T
c.742G>A
1 paper
NM_017668.3
p.R250Q
c.749G>A
1 paper
NM_017668.3
p.S252*
c.755C>A
1 paper
NM_017668.3
p.S252*
c.755C>G
1 paper
NM_017668.3
p.L254H
c.761T>A
1 paper
NM_017668.3
p.G258insFs
c.773dupG
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