Varaico: Literature-Extracted Genetic Variants

Gene:PTCH2
Variant:p.E607E

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
6 papers
NM_003738.5
p.E607E
c.1821A>G
Surrounding Variants
1 paper
NM_003738.5
p.V600D
c.1799T>A
1 paper
NM_003738.5
p.T597N
c.1790C>A
1 paper
NM_003738.5
p.L596H
c.1787T>A
1 paper
NM_003738.5
p.H595P
c.1784A>C
1 paper
NM_003738.5
p.A594T
c.1780G>A
8 papers
NM_003738.5
p.H622Y
c.1864C>T
3 papers
NM_003738.5
p.H622N
c.1864C>A
1 paper
NM_003738.5
p.P590T
c.1768C>A
1 paper
NM_003738.5
p.P626delFs
c.1877delG
1 paper
NM_003738.5
p.G587E
c.1760G>A
1 paper
NM_003738.5
p.G587R
c.1759G>C
1 paper
NM_003738.5
p.G587R
c.1759G>A
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