Varaico: Literature-Extracted Genetic Variants

Gene:NDC1
Variant:p.S569L

NDC1

63 papers

Pfam Domains

Ndc1_Nupaa 19–667UCSCNucleoporin protein Ndc1-Nup

Gene Aliases

HGNC Name

NDC1 transmembrane nucleoporin

HGNC Previous Symbol

TMEM48

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_018087.5
p.S569L
c.1706C>T
Surrounding Variants
1 paper
NM_018087.5
p.A574T
c.1720G>A
1 paper
NM_018087.5
p.T577I
c.1730C>T
1 paper
NM_018087.5
p.G567Splc
c.1699+35A>G
1 paper
NM_018087.5
p.H546Y
c.1636C>T
1 paper
NM_018087.5
p.S544fs
c.1630_1631fs
1 paper
NM_018087.5
p.F543F
c.1629C>T
1 paper
NM_018087.5
p.F543insFs
c.1628dupT
1 paper
NM_001168551.2
p.F502L
c.1506T>G
1 paper
NM_001168551.2
p.F502L
c.1506T>A
1 paper
NM_001168551.2
p.F502L
c.1504T>C
1 paper
NM_018087.5
p.R526C
c.1576C>T
1 paper
NM_018087.5
p.E508D
c.1524G>T
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