Varaico: Literature-Extracted Genetic Variants

Gene:NOLC1
Variant:p.P503del1

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.P503del1
c.1507_1509delCCT
Surrounding Variants
1 paper
NM_004741.5
p.K484E
c.1450A>G
1 paper
NM_004741.5
p.E528fs
c.1582_1583fs
1 paper
NM_004741.5
p.E528delFs
c.1583delA
1 paper
NM_004741.5
p.S476F
c.1427C>T
1 paper
NM_004741.5
p.E531G
c.1592A>G
1 paper
NM_004741.5
p.D472N
c.1414G>A
1 paper
NM_004741.5
p.R467R
c.1401G>A
1 paper
NM_004741.5
p.Q464H
c.1392G>C
1 paper
NM_004741.5
p.A543A
c.1629C>G
3 papers
NM_004741.5
p.S456P
c.1366T>C
1 paper
NM_004741.5
p.L552L
c.1656G>A
1 paper
NM_004741.5
p.A554_E567del14
c.1660_1700del42
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