Varaico: Literature-Extracted Genetic Variants

Gene:PTCH2

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
1–12 of 485 variants
16 papers
NM_003738.5
p.S391delFs
c.1172_1173delAG
15 papers
NM_003738.5
p.L104P
c.311T>C
8 papers
NM_003738.5
p.H622Y
c.1864C>T
7 papers
NM_003738.5
p.R358H
c.1073G>A
7 papers
NM_003738.5
p.A436V
c.1307C>T
7 papers
NM_003738.5
p.T988M
c.2963C>T
6 papers
NM_003738.5
p.S391fs
c.1171_1172fs
6 papers
NM_003738.5
p.E607E
c.1821A>G
6 papers
NM_003738.5
p.A685A
c.2055T>C
6 papers
NM_003738.5
p.R719Q
c.2156G>A
5 papers
NM_003738.5
p.P1116L
c.3347C>T
4 papers
NM_003738.5
p.R175L
c.524G>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."