Varaico: Literature-Extracted Genetic Variants

Gene:SNRPN
Variant:p.G4insFs

SNRPN

74 papers

RefSeq Summary

This gene is located within the Prader-Willi Syndrome critical region on chromosome 15 and is imprinted and expressed from the paternal allele. It encodes a component of the small nuclear ribonucleopr...

Pfam Domains

LSMaa 7–82UCSCLSM domain

Gene Aliases

HGNC Name

small nuclear ribonucleoprotein polypeptide N

HGNC Previous Symbol

PWCR

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_003097.6
p.G4insFs
c.12dupC
Surrounding Variants
1 paper
NM_003097.6
p.K5insFs
c.15dupG
1 paper
NM_003097.6
p.L10M
c.28C>A
2 papers
NM_003097.6
p.R25*
c.73C>T
1 paper
NM_003097.6
p.D35E
c.105C>A
1 paper
NM_003097.6
p.H37R
c.110A>G
1 paper
NM_003097.6
p.M1insFs
c.3dupG
1 paper
NM_003097.6
p.A56V
c.167C>T
1 paper
NM_003097.6
p.R61delFs
c.183delT
1 paper
NM_003097.6
p.R61R
c.183T>C
2 papers
NM_003097.6
p.R65W
c.193C>T
1 paper
NM_003097.6
p.L71M
c.211T>A
1 paper
NM_003097.6
p.R73C
c.217C>T
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."