Varaico: Literature-Extracted Genetic Variants

Gene:NDC1
Variant:p.L404*

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
1 paper
NM_018087.5
p.L404*
c.1211T>G
Surrounding Variants
1 paper
NM_018087.5
p.L404*
c.1211T>A
1 paper
NM_018087.5
p.H360_N361delFs
c.1079_1083del5
1 paper
NM_018087.5
p.H358D
c.1072C>G
1 paper
NM_018087.5
p.Y341N
c.1021T>A
1 paper
NM_018087.5
p.Q333H
c.999G>T
1 paper
NM_018087.5
p.Q333H
c.999G>C
1 paper
NM_018087.5
p.L330V
c.988T>G
1 paper
NM_018087.5
p.S432L
c.1295C>T
1 paper
NM_018087.5
p.D442V
c.1325A>T
1 paper
NM_018087.5
p.T449T
c.1347C>T
1 paper
NM_018087.5
p.E508D
c.1524G>T
1 paper
NM_018087.5
p.E508D
c.1524G>C
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