Varaico: Literature-Extracted Genetic Variants

Gene:NDEL1
Variant:p.D124N

NDEL1

51 papers

Pfam Domains

NUDE_Caa 135–310UCSCNUDE protein, C-terminal conserved region

Gene Aliases

HGNC Name

nudE neurodevelopment protein 1 like 1

HGNC Alias Symbols

NUDEL; MITAP1; NDE1L1; NDE2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_030808.5
p.D124N
c.370G>A
Surrounding Variants
1 paper
NM_030808.5
p.E119A
c.356A>C
1 paper
NM_030808.5
p.R105Q
c.314G>A
1 paper
NM_030808.5
p.R105P
c.314G>C
2 papers
NM_030808.5
p.R105W
c.313C>T
1 paper
NM_030808.5
p.E84V
c.251A>T
1 paper
NM_030808.5
p.Q66L
c.197A>T
1 paper
NM_030808.5
p.E46*
c.136G>T
3 papers
NM_030808.5
p.Q31L
c.92A>T
1 paper
NM_030808.5
p.E156A
c.467A>C
1 paper
NM_030808.5
p.E4insFs
c.11dupA
1 paper
NM_030808.5
p.G3S
c.7G>A
1 paper
NM_030808.5
p.S198A
c.592T>G
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