Varaico: Literature-Extracted Genetic Variants

Gene:PTCH2
Variant:p.A142S

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.A142S
c.424G>T
Surrounding Variants
1 paper
NM_003738.5
p.Q146L
c.437A>T
1 paper
NM_003738.5
p.V147V
c.441A>T
1 paper
NM_003738.5
p.H135Y
c.403C>T
1 paper
NM_003738.5
p.H135N
c.403C>A
1 paper
NM_003738.5
p.G151G
c.453G>T
1 paper
NM_003738.5
p.G151insFs
c.453dupG
1 paper
NM_003738.5
p.K152Splc
c.455+1G>A
2 papers
NM_003738.5
p.A131G
c.392C>G
1 paper
NM_003738.5
p.A131delFs
c.391delC
1 paper
NM_003738.5
p.E130Q
c.388G>C
1 paper
NM_003738.5
p.P129P
c.387C>T
1 paper
NM_003738.5
p.K152Splc
c.455+11C>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."