Varaico: Literature-Extracted Genetic Variants

Gene:PTCH2
Variant:p.T714T

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.T714T
c.2142G>A
Surrounding Variants
2 papers
NM_003738.5
p.A712V
c.2135C>T
1 paper
NM_003738.5
p.R719W
c.2155C>T
6 papers
NM_003738.5
p.R719Q
c.2156G>A
4 papers
NM_003738.5
p.R719R
c.2157G>A
1 paper
NM_003738.5
p.G720D
c.2159G>A
1 paper
NM_003738.5
p.T705_V707delFs
c.2114_2120del7
1 paper
NM_003738.5
p.V707G
c.2120T>G
1 paper
NM_003738.5
p.G703E
c.2108G>A
1 paper
NM_003738.5
p.L727delFs
c.2180delA
2 papers
NM_003738.5
p.S728S
c.2184C>T
1 paper
NM_003738.5
p.R732_Y733delFs
c.2196_2197delAC
1 paper
NM_003738.5
p.Y733delFs
c.2197_2198delTA
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."