Varaico: Literature-Extracted Genetic Variants

Gene:PSPN
Variant:p.P30delFs

PSPN

83 papers

RefSeq Summary

This gene encodes a secreted ligand of the GDNF (glial cell line-derived neurotrophic factor) subfamily and TGF-beta (transforming growth factor-beta) superfamily of proteins. The encoded preproprotei...

Pfam Domains

TGF_betaaa 65–154UCSCTransforming growth factor beta like domain

Gene Aliases

HGNC Name

persephin

HGNC Alias Symbol

PSP

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_004158.5
p.P30delFs
c.88delG
Surrounding Variants
1 paper
NM_004158.5
p.R27S
c.79C>A
1 paper
NM_004158.5
p.S37A
c.109T>G
1 paper
NM_004158.5
p.D25N
c.73G>A
1 paper
NM_004158.5
p.L18L
c.52C>T
1 paper
NM_004158.5
p.S38_A44delFs
c.112_131del20
1 paper
NM_004158.5
p.G45G
c.135A>G
1 paper
NM_004158.5
p.S15S
c.45C>A
1 paper
NM_004158.5
p.S15F
c.44C>T
1 paper
NM_004158.5
p.G50Splc
c.148+5G>C
1 paper
NM_004158.5
p.V3insFs
c.7_8insGG
1 paper
NM_004158.5
p.A2insFs
c.4_5insGG
1 paper
NM_004158.5
p.M1V
c.1A>G
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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."