Varaico: Literature-Extracted Genetic Variants

Gene:PSPN
Variant:p.Y82*

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.Y82*
c.246C>G
Surrounding Variants
1 paper
NM_004158.5
p.Y82*
c.246C>A
6 papers
NM_004158.5
p.R91C
c.271C>T
1 paper
NM_004158.5
p.T72P
c.214A>C
1 paper
NM_004158.5
p.S70I
c.209G>T
1 paper
NM_004158.5
p.P65A
c.193C>G
2 papers
NM_004158.5
p.R102C
c.304C>T
2 papers
NM_004158.5
p.R111W
c.331C>T
1 paper
NM_004158.5
p.L112M
c.334C>A
1 paper
NM_004158.5
p.G50Splc
c.149-18C>T
1 paper
NM_004158.5
p.T130I
c.389C>T
1 paper
NM_004158.5
p.D131H
c.391G>C
1 paper
NM_004158.5
p.D131N
c.391G>A
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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."