Varaico: Literature-Extracted Genetic Variants

Gene:SNRPN
Variant:p.A159insFs

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.A159insFs
c.475_476insC
Surrounding Variants
2 papers
NM_003097.6
p.A157T
c.469G>A
3 papers
NM_003097.6
p.A162fs
c.484_485fs
1 paper
NM_003097.6
p.G163*
c.487G>T
1 paper
NM_003097.6
p.V150I
c.448G>A
1 paper
NM_003097.6
p.P169S
c.505C>T
1 paper
NM_003097.6
p.R172Q
c.515G>A
1 paper
NM_003097.6
p.Q140_V141Splc
c.421-2A>G
1 paper
NM_003097.6
p.V179I
c.535G>A
1 paper
NM_003097.6
p.P202T
c.604C>A
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
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