Varaico: Literature-Extracted Genetic Variants

Gene:PTCH2
Variant:p.I992_V993Splc

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.I992_V993Splc
c.2976+2T>C
Surrounding Variants
1 paper
NM_003738.5
p.A989D
c.2966C>A
7 papers
NM_003738.5
p.T988M
c.2963C>T
2 papers
NM_003738.5
p.W987S
c.2960G>C
1 paper
NM_003738.5
p.N985S
c.2954A>G
2 papers
NM_003738.5
p.V978D
c.2933T>A
2 papers
NM_003738.5
p.V968I
c.2902G>A
1 paper
NM_003738.5
p.A967V
c.2900C>T
1 paper
NM_003738.5
p.L966P
c.2897T>C
3 papers
NM_003738.5
p.R962C
c.2884C>T
2 papers
NM_003738.5
p.R961W
c.2881C>T
1 paper
NM_003738.5
p.L958Q
c.2873T>A
1 paper
NM_003738.5
p.L958M
c.2872C>A
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