Varaico: Literature-Extracted Genetic Variants

Gene:SNRPN
Variant:p.M80I

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.M80I
c.240G>T
Surrounding Variants
1 paper
NM_003097.6
p.M80I
c.240G>A
1 paper
NM_003097.6
p.M80I
c.240G>C
1 paper
NM_003097.6
p.V78E
c.233T>A
1 paper
NM_003097.6
p.R73C
c.217C>T
1 paper
NM_003097.6
p.L71M
c.211T>A
2 papers
NM_003097.6
p.R65W
c.193C>T
1 paper
NM_003097.6
p.R61R
c.183T>C
1 paper
NM_003097.6
p.R61delFs
c.183delT
1 paper
NM_003097.6
p.A56V
c.167C>T
1 paper
NM_003097.6
p.R94L
c.281G>T
1 paper
NM_003097.6
p.A98V
c.293C>T
1 paper
NM_003097.6
p.A110G
c.329C>G
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