Varaico: Literature-Extracted Genetic Variants

Gene:PTCH2
Variant:p.Q457_V458Splc

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.Q457_V458Splc
c.1372-2A>G
Surrounding Variants
2 papers
NM_003738.5
p.Q457_V458Splc
c.1372-1G>A
1 paper
NM_003738.5
p.P460R
c.1379C>G
1 paper
NM_003738.5
p.L462V
c.1384T>G
1 paper
NM_003738.5
p.A463T
c.1387G>A
1 paper
NM_003738.5
p.D469N
c.1405G>A
1 paper
NM_003738.5
p.D469G
c.1406A>G
4 papers
NM_003738.5
p.V471I
c.1411G>A
1 paper
NM_003738.5
p.F472L
c.1414T>C
1 paper
NM_003738.5
p.F472L
c.1416C>G
1 paper
NM_003738.5
p.F472L
c.1416C>A
1 paper
NM_003738.5
p.L473fs
c.1417_1418fs
1 paper
NM_003738.5
p.L473delFs
c.1417delG
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