Varaico: Literature-Extracted Genetic Variants

Gene:PTCH2
Variant:p.Q420K

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.Q420K
c.1258C>A
Surrounding Variants
1 paper
NM_003738.5
p.C418W
c.1254C>G
1 paper
NM_003738.5
p.W416insFs
c.1247_1248insT
2 papers
NM_003738.5
p.S424S
c.1272C>T
2 papers
NM_003738.5
p.R415W
c.1243C>T
1 paper
NM_003738.5
p.R415ins2
c.1243_1244ins6
1 paper
NM_003738.5
p.L427F
c.1279C>T
1 paper
NM_003738.5
p.A409V
c.1226C>T
1 paper
NM_003738.5
p.L431L
c.1293G>A
2 papers
NM_003738.5
p.M405_L406Splc
c.1216-1G>T
1 paper
NM_003738.5
p.M405_L406Splc
c.1216-1G>A
1 paper
NM_003738.5
p.L432_A434delFs
c.1296_1300del5
1 paper
NM_003738.5
p.L432_L435Fs
c.1296_1305delinsCACCAFs
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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."