Varaico: Literature-Extracted Genetic Variants

Gene:PTCH2
Variant:p.P772insFs

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.P772insFs
c.2315dupC
Surrounding Variants
1 paper
NM_003738.5
p.A768V
c.2303C>T
1 paper
NM_003738.5
p.R779H
c.2336G>A
1 paper
NM_003738.5
p.Y784F
c.2351A>T
1 paper
NM_003738.5
p.Y785*
c.2355C>G
1 paper
NM_003738.5
p.Y785insFs
c.2354dupA
1 paper
NM_003738.5
p.Y785*
c.2355C>A
1 paper
NM_003738.5
p.L759M
c.2275C>A
1 paper
NM_003738.5
p.Q790Q
c.2370G>A
1 paper
NM_003738.5
p.S752C
c.2255C>G
1 paper
NM_003738.5
p.G791Splc
c.2371+9C>T
1 paper
NM_003738.5
p.A750P
c.2248G>C
2 papers
NM_003738.5
p.A750T
c.2248G>A
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