Varaico: Literature-Extracted Genetic Variants

Gene:NOLC1
Variant:p.I53insFs

NOLC1

127 papers

Pfam Domains

SRP40_Caa 624–696UCSCSRP40, C-terminal domain

Gene Aliases

HGNC Name

nucleolar and coiled-body phosphoprotein 1

HGNC Alias Symbols

P130; KIAA0035; NOPP140; NOPP130; Srp40

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_004741.5
p.I53insFs
c.158dupT
Surrounding Variants
1 paper
NM_004741.5
p.S48F
c.143C>T
1 paper
NM_004741.5
p.A47_S48insG
c.139_143ins3
1 paper
NM_004741.5
p.K59Splc
c.176+1G>A
1 paper
NM_004741.5
p.K59Splc
c.177-1G>A
1 paper
NM_004741.5
p.N71delFs
c.211delA
1 paper
NM_004741.5
p.V74delFs
c.220delG
1 paper
NM_004741.5
p.V74V
c.222G>A
1 paper
NM_004741.5
p.D89Y
c.265G>T
1 paper
NM_004741.5
p.E92del1
c.274_276delGAG
1 paper
NM_004741.5
p.A106A
c.318T>A
1 paper
NM_004741.5
p.P108L
c.323C>T
2 papers
NM_004741.5
p.R111*
c.331C>T
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