Varaico: Literature-Extracted Genetic Variants

Gene:PTCH2
Variant:p.N157delFs

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.N157delFs
c.471delG
Surrounding Variants
1 paper
NM_003738.5
p.K158*
c.472A>T
1 paper
NM_003738.5
p.K158E
c.472A>G
1 paper
NM_003738.5
p.W154*
c.462G>A
1 paper
NM_003738.5
p.W154*
c.461G>A
1 paper
NM_003738.5
p.P166S
c.496C>T
1 paper
NM_003738.5
p.K152Splc
c.456-11G>A
2 papers
NM_003738.5
p.E169*
c.505G>T
1 paper
NM_003738.5
p.G171A
c.512G>C
1 paper
NM_003738.5
p.E174Q
c.520G>C
4 papers
NM_003738.5
p.R175L
c.524G>T
2 papers
NM_003738.5
p.K152Splc
c.456-37T>C
1 paper
NM_003738.5
p.K152Splc
c.455+11C>G
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."