Varaico: Literature-Extracted Genetic Variants

Gene:PTCH2
Variant:p.G791E

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.G791E
c.2372G>A
Surrounding Variants
1 paper
NM_003738.5
p.D799H
c.2395G>C
1 paper
NM_003738.5
p.W800*
c.2399G>A
1 paper
NM_003738.5
p.W800*
c.2400G>A
1 paper
NM_003738.5
p.R804C
c.2410C>T
1 paper
NM_003738.5
p.T806P
c.2416A>C
1 paper
NM_003738.5
p.I805insFs
c.2415dupC
1 paper
NM_003738.5
p.R807H
c.2420G>A
1 paper
NM_003738.5
p.H808Y
c.2422C>T
1 paper
NM_003738.5
p.S809L
c.2426C>T
1 paper
NM_003738.5
p.R811H
c.2432G>A
1 paper
NM_003738.5
p.G791Splc
c.2371+9C>T
1 paper
NM_003738.5
p.A820A
c.2460C>G
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