Varaico: Literature-Extracted Genetic Variants

Gene:NDE1
Variant:p.Q186*

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
3 papers
NM_017668.3
p.Q186*
c.556C>T
Surrounding Variants
1 paper
NM_017668.3
p.Q186E
c.556C>G
2 papers
NM_017668.3
p.K185N
c.555G>C
2 papers
NM_017668.3
p.K185N
c.555G>T
2 papers
NM_017668.3
p.K185_Q186delins
c.555_556delinsCT
1 paper
NM_017668.3
p.K185_Q186delFs
c.555_556delGC
1 paper
NM_017668.3
p.Q183*
c.547C>T
1 paper
NM_017668.3
p.T191I
c.572C>T
1 paper
NM_017668.3
p.D175_L176delFs
c.524_528del5
1 paper
NM_017668.3
p.T202A
c.604A>G
1 paper
NM_017668.3
p.T204I
c.611C>T
1 paper
NM_017668.3
p.T209M
c.626C>T
1 paper
NM_017668.3
p.S211F
c.632C>T
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