Varaico: Literature-Extracted Genetic Variants

Gene:PTCH2
Variant:p.P833L

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.P833L
c.2498C>T
Surrounding Variants
1 paper
NM_003738.5
p.P833S
c.2497C>T
1 paper
NM_003738.5
p.A830ins2
c.2489_2490ins6
1 paper
NM_003738.5
p.A830T
c.2488G>A
4 papers
NM_003738.5
p.D829D
c.2487C>T
1 paper
NM_003738.5
p.S837I
c.2510G>T
1 paper
NM_003738.5
p.S837delins
c.2510_2511delinsTT
1 paper
NM_003738.5
p.G828A
c.2483G>C
1 paper
NM_003738.5
p.G828*
c.2482G>T
1 paper
NM_003738.5
p.K822fs
c.2464_2465fs
1 paper
NM_003738.5
p.A820A
c.2460C>G
1 paper
NM_003738.5
p.R811H
c.2432G>A
1 paper
NM_003738.5
p.S809L
c.2426C>T
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