Varaico: Literature-Extracted Genetic Variants

Gene:PTCH2
Variant:p.Q361*

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
2 papers
NM_003738.5
p.Q361*
c.1081C>T
Surrounding Variants
2 papers
NM_003738.5
p.V360V
c.1080G>T
1 paper
NM_003738.5
p.Q361_L362Splc
c.1083+1G>A
2 papers
NM_003738.5
p.Q361_L362Splc
c.1083+3C>T
7 papers
NM_003738.5
p.R358H
c.1073G>A
1 paper
NM_003738.5
p.A348T
c.1042G>A
4 papers
NM_003738.5
p.Q347*
c.1039C>T
2 papers
NM_003738.5
p.E346Q
c.1036G>C
1 paper
NM_003738.5
p.S344_E345delFs
c.1032_1035del4
1 paper
NM_003738.5
p.S344G
c.1030A>G
1 paper
NM_003738.5
p.W343*
c.1029G>A
1 paper
NM_003738.5
p.W343*
c.1028G>A
1 paper
NM_003738.5
p.D340insFs
c.1018dupG
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