Varaico: Literature-Extracted Genetic Variants

Gene:PTCH2
Variant:p.S391fs

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
2 papers
NM_003738.5
p.S391fs
c.1171_1172fs
Surrounding Variants
6 papers
NM_003738.5
p.S391fs
c.1171_1172fs
16 papers
NM_003738.5
p.S391delFs
c.1172_1173delAG
1 paper
NM_003738.5
p.S391del1
c.1171_1172delAGA
1 paper
NM_003738.5
p.A389V
c.1166C>T
1 paper
NM_003738.5
p.I386F
c.1156A>T
1 paper
NM_003738.5
p.D385N
c.1153G>A
1 paper
NM_003738.5
p.R397C
c.1189C>T
1 paper
NM_003738.5
p.R397delFs
c.1189delG
1 paper
NM_003738.5
p.T381I
c.1142C>T
1 paper
NM_003738.5
p.S379T
c.1135T>A
1 paper
NM_003738.5
p.L403delFs
c.1208delA
1 paper
NM_003738.5
p.Q374*
c.1120C>T
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