Varaico: Literature-Extracted Genetic Variants

Gene:PTCH2
Variant:p.G859_T861delFs

PTCH2

326 papers

RefSeq Summary

This gene encodes a transmembrane receptor of the patched gene family. The encoded protein may function as a tumor suppressor in the hedgehog signaling pathway. Alterations in this gene have been asso...

Pfam Domains

TRA2_Naa 102–253UCSCTransformer protein 2 N-terminal domain
Sterol-sensingaa 418–570UCSCSterol-sensing domain of SREBP cleavage-activation

Gene Aliases

HGNC Name

patched 2

HGNC Alias Symbol

SLC65B2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_003738.5
p.G859_T861delFs
c.2577_2583del7
Surrounding Variants
2 papers
NM_003738.5
p.E854K
c.2560G>A
1 paper
NM_003738.5
p.L871M
c.2611C>A
1 paper
NM_003738.5
p.A873A
c.2619C>A
1 paper
NM_003738.5
p.G849V
c.2546G>T
1 paper
NM_003738.5
p.R847K
c.2540G>A
1 paper
NM_003738.5
p.N877I
c.2630A>T
1 paper
NM_003738.5
p.V845_D846insFs
c.2535_2536dupGG
1 paper
NM_003738.5
p.P881Q
c.2642C>A
1 paper
NM_003738.5
p.P882S
c.2644C>T
1 paper
NM_003738.5
p.L839_T840insFs
c.2517_2518ins5
1 paper
NM_003738.5
p.L839_T840insFs
c.2517_2518ins4
1 paper
NM_003738.5
p.T840fs
c.2518_2519fs
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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."