Varaico: Literature-Extracted Genetic Variants

Gene:NDEL1
Variant:p.C273S

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.C273S
c.818G>C
Surrounding Variants
1 paper
NM_030808.5
p.C273S
c.817T>A
1 paper
NM_030808.5
p.L270L
c.808T>C
1 paper
NM_030808.5
p.S288A
c.862T>G
1 paper
NM_030808.5
p.V291I
c.871G>A
1 paper
NM_030808.5
p.S310P
c.928T>C
1 paper
NM_030808.5
p.R261Q
c.782G>A
2 papers
NM_030808.5
p.V256M
c.766G>A
1 paper
NM_030808.5
p.V256L
c.766G>C
1 paper
NM_030808.5
p.V256L
c.766G>T
1 paper
NM_030808.5
p.F320F
c.960T>C
1 paper
NM_030808.5
p.A323S
c.967G>T
1 paper
NM_030808.5
p.P327del1
c.979_980delCCT
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