Varaico: Literature-Extracted Genetic Variants

Gene:NOLC1
Variant:p.P108L

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.P108L
c.323C>T
Surrounding Variants
1 paper
NM_004741.5
p.A106A
c.318T>A
2 papers
NM_004741.5
p.R111*
c.331C>T
1 paper
NM_004741.5
p.R111Q
c.332G>A
1 paper
NM_004741.5
p.K118delFs
c.354delG
1 paper
NM_004741.5
p.A119insFs
c.355_356insT
1 paper
NM_004741.5
p.A119insFs
c.355_356insTA
1 paper
NM_004741.5
p.K122T
c.365A>C
1 paper
NM_004741.5
p.K122R
c.365A>G
1 paper
NM_004741.5
p.E125V
c.374A>T
1 paper
NM_004741.5
p.S127R
c.379A>C
1 paper
NM_004741.5
p.S127R
c.381C>A
1 paper
NM_004741.5
p.S127R
c.381C>G
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