Varaico: Literature-Extracted Genetic Variants

Gene:PTCH2
Variant:p.L104P

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
15 papers
NM_003738.5
p.L104P
c.311T>C
Surrounding Variants
1 paper
NM_003738.5
p.L104L
c.310C>T
1 paper
NM_003738.5
p.K101delFs
c.301delT
1 paper
NM_003738.5
p.A108insFs
c.323_324ins2
1 paper
NM_003738.5
p.T100insFs
c.298dupA
1 paper
NM_003738.5
p.Y110_T111insCC
c.328_332ins6
1 paper
NM_003738.5
p.S112F
c.335C>T
1 paper
NM_003738.5
p.E96fs
c.286_287fs
1 paper
NM_003738.5
p.Q113E
c.337C>G
1 paper
NM_003738.5
p.Q95*
c.283C>T
1 paper
NM_003738.5
p.V93insFs
c.278_279insT
1 paper
NM_003738.5
p.V93M
c.277G>A
1 paper
NM_003738.5
p.R92Q
c.275G>A
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