Varaico: Literature-Extracted Genetic Variants

Gene:PTCH2
Variant:p.P1117fs

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.P1117fs
c.3349_3350fs
Surrounding Variants
1 paper
NM_003738.5
p.P1117L
c.3350C>T
5 papers
NM_003738.5
p.P1116L
c.3347C>T
1 paper
NM_003738.5
p.P1118S
c.3352C>T
1 paper
NM_003738.5
p.P1108L
c.3323C>T
1 paper
NM_003738.5
p.L1104fs
c.3310_3311fs
1 paper
NM_003738.5
p.L1104insFs
c.3311_3312insA
2 papers
NM_003738.5
p.A1090A
c.3270G>A
2 papers
NM_003738.5
p.A1090V
c.3269C>T
1 paper
NM_003738.5
p.F1088Y
c.3263T>A
1 paper
NM_003738.5
p.R1086Splc
c.3258-1G>T
1 paper
NM_003738.5
p.G1078V
c.3233G>T
1 paper
NM_003738.5
p.G1072R
c.3214G>C
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