Varaico: Literature-Extracted Genetic Variants

Gene:PTCH2
Variant:p.Y733delFs

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.Y733delFs
c.2197_2198delTA
Surrounding Variants
1 paper
NM_003738.5
p.R732_Y733delFs
c.2196_2197delAC
1 paper
NM_003738.5
p.S735_L736insFs
c.2205_2206dupCC
1 paper
NM_003738.5
p.Y737*
c.2211C>G
1 paper
NM_003738.5
p.Y737*
c.2211C>A
1 paper
NM_003738.5
p.E738*
c.2212G>T
1 paper
NM_003738.5
p.E738Q
c.2212G>C
2 papers
NM_003738.5
p.S728S
c.2184C>T
1 paper
NM_003738.5
p.L727delFs
c.2180delA
1 paper
NM_003738.5
p.G720D
c.2159G>A
4 papers
NM_003738.5
p.R719R
c.2157G>A
6 papers
NM_003738.5
p.R719Q
c.2156G>A
1 paper
NM_003738.5
p.R719W
c.2155C>T
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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."