Varaico: Literature-Extracted Genetic Variants

Gene:NOP14
Variant:p.Q716R

NOP14

74 papers

RefSeq Summary

This gene encodes a protein that plays a role in pre-18s rRNA processing and small ribosomal subunit assembly. The encoded protein may be involved in the regulation of pancreatic cancer cell prolifera...

Pfam Domains

Nop14aa 23–846UCSCNop14-like family

Gene Aliases

HGNC Name

NOP14 nucleolar protein

HGNC Previous Symbols

C4orf9; NOL14

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
5 papers
NM_001291978.2
p.Q716R
c.2147A>G
Surrounding Variants
1 paper
NM_001291978.2
p.T720K
c.2159C>A
1 paper
NM_001291978.2
p.L700L
c.2100C>T
3 papers
NM_001291978.2
p.R697C
c.2089C>T
1 paper
NM_001291978.2
p.G691S
c.2071G>A
1 paper
NM_001291978.2
p.R684Q
c.2051G>A
1 paper
NM_001291978.2
p.R684Q
c.2051G>A
1 paper
NM_001291978.2
p.R684*
c.2050C>T
1 paper
NM_001291978.2
p.A674fs
c.2020_2021fs
1 paper
NM_001291978.2
p.R671I
c.2012G>T
1 paper
NM_001291978.2
p.R667H
c.2000G>A
1 paper
NM_001291978.2
p.Q661insFs
c.1982_1983insC
1 paper
NM_001291978.2
p.Q661fs
c.1981_1982fs
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