Varaico: Literature-Extracted Genetic Variants

Gene:PTCH2
Variant:p.E130Q

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.E130Q
c.388G>C
Surrounding Variants
1 paper
NM_003738.5
p.P129P
c.387C>T
2 papers
NM_003738.5
p.A131G
c.392C>G
1 paper
NM_003738.5
p.A131delFs
c.391delC
1 paper
NM_003738.5
p.N125_L127delFs
c.375_381del7
2 papers
NM_003738.5
p.E124_N125delFs
c.372_373delTC
1 paper
NM_003738.5
p.H135Y
c.403C>T
1 paper
NM_003738.5
p.H135N
c.403C>A
1 paper
NM_003738.5
p.N125fs
c.373_374fs
1 paper
NM_003738.5
p.G123fs
c.367_368fs
1 paper
NM_003738.5
p.E122insFs
c.365_366ins5
1 paper
NM_003738.5
p.Q121H
c.363G>C
1 paper
NM_003738.5
p.R120P
c.359G>C
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