Varaico: Literature-Extracted Genetic Variants

Gene:PTCH2
Variant:p.D335Fs

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.D335Fs
c.1003delinsGAFs
Surrounding Variants
1 paper
NM_003738.5
p.H339R
c.1016A>G
1 paper
NM_003738.5
p.H331Q
c.993T>A
1 paper
NM_003738.5
p.H331Y
c.991C>T
1 paper
NM_003738.5
p.D340insFs
c.1018dupG
1 paper
NM_003738.5
p.R326_L328insFs
c.978_984dup7
1 paper
NM_003738.5
p.W343*
c.1028G>A
1 paper
NM_003738.5
p.W343*
c.1029G>A
1 paper
NM_003738.5
p.S344G
c.1030A>G
1 paper
NM_003738.5
p.R326fs
c.976_977fs
2 papers
NM_003738.5
p.R326H
c.977G>A
1 paper
NM_003738.5
p.R326delFs
c.976delG
2 papers
NM_003738.5
p.E346Q
c.1036G>C
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