Varaico: Literature-Extracted Genetic Variants

Gene:PPY
Variant:p.L8H

PPY

62 papers

RefSeq Summary

This gene encodes a member of the neuropeptide Y (NPY) family of peptides. The encoded 95 aa preproprotein is synthesized in the pancreatic islets of Langerhans and proteolytically processed to genera...

Pfam Domains

Hormone_3aa 31–66UCSCPancreatic hormone peptide

Gene Aliases

HGNC Name

pancreatic polypeptide

HGNC Alias Names

pancreatic polypeptide Y; prepro-PP (prepropancreatic polypeptide)

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_002722.5
p.L8H
c.23T>A
Surrounding Variants
2 papers
NM_002722.5
p.C7G
c.19T>G
1 paper
NM_002722.5
p.L12H
c.35T>A
1 paper
NM_002722.5
p.A2A
c.6T>A
1 paper
NM_002722.5
p.C16R
c.46T>C
1 paper
NM_002722.5
p.L20S
c.59T>C
1 paper
NM_002722.5
p.Y36F
c.107A>T
2 papers
NM_002722.5
p.P37insFs
c.111dupA
1 paper
NM_002722.5
p.G38fs
c.112_113fs
1 paper
NM_002722.5
p.G38A
c.113G>C
1 paper
NM_002722.5
p.P43insFs
c.129dupA
1 paper
NM_002722.5
p.R54C
c.160C>T
1 paper
NM_002722.5
p.I57delFs
c.171delG
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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."