Varaico: Literature-Extracted Genetic Variants

Gene:NOP14
Variant:p.R46G

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
2 papers
NM_001291978.2
p.R46G
c.136C>G
Surrounding Variants
1 paper
NM_001291978.2
p.Q39*
c.115C>T
1 paper
NM_001291978.2
p.R21Q
c.62G>A
1 paper
NM_001291978.2
p.K65_R66Splc
c.196-138G>A
1 paper
NM_001291978.2
p.G89R
c.265G>C
2 papers
NM_001291978.2
p.G89R
c.265G>A
1 paper
NM_001291978.2
p.E99K
c.295G>A
1 paper
NM_001291978.2
p.Q110K
c.328C>A
1 paper
NM_001291978.2
p.P186L
c.557C>T
1 paper
NM_001291978.2
p.L192V
c.574C>G
1 paper
NM_001291978.2
p.Q208L
c.623A>T
1 paper
NM_001291978.2
p.L217H
c.650T>A
1 paper
NM_001291978.2
p.T218A
c.652A>G
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