Varaico: Literature-Extracted Genetic Variants

Gene:NOLC1
Variant:p.D330N

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.D330N
c.988G>A
Surrounding Variants
1 paper
NM_004741.5
p.P318P
c.954T>A
1 paper
NM_004741.5
p.T306I
c.917C>T
1 paper
NM_004741.5
p.A297T
c.889G>A
1 paper
NM_004741.5
p.P295R
c.884C>G
1 paper
NM_004741.5
p.P294S
c.880C>T
1 paper
NM_004741.5
p.V292A
c.875T>C
1 paper
NM_004741.5
p.S333delFs
c.997delT
1 paper
NM_004741.5
p.P353L
c.1058C>T
1 paper
NM_004741.5
p.A355_K356insT
c.1063_1067ins3
1 paper
NM_004741.5
p.A355_K356insTA
c.1063_1067ins6
1 paper
NM_004741.5
p.D367N
c.1099G>A
1 paper
NM_004741.5
p.G287Splc
c.859+1G>A
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