Varaico: Literature-Extracted Genetic Variants

Gene:SNRPN
Variant:p.P202T

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.P202T
c.604C>A
Surrounding Variants
1 paper
NM_003097.6
p.P207insFs
c.620_621insT
1 paper
NM_003097.6
p.R209R
c.625C>A
1 paper
NM_003097.6
p.T211M
c.632C>T
1 paper
NM_003097.6
p.P218L
c.653C>T
1 paper
NM_003097.6
p.P222P
c.666C>G
1 paper
NM_003097.6
p.I227V
c.679A>G
1 paper
NM_003097.6
p.R236G
c.706C>G
1 paper
NM_003097.6
p.R236C
c.706C>T
1 paper
NM_003097.6
p.R236H
c.707G>A
1 paper
NM_003097.6
p.V179I
c.535G>A
1 paper
NM_003097.6
p.R172Q
c.515G>A
1 paper
NM_003097.6
p.P169S
c.505C>T
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