Varaico: Literature-Extracted Genetic Variants

Gene:PTCH1

PTCH1

2,098 papers

RefSeq Summary

This gene encodes a member of the patched family of proteins and a component of the hedgehog signaling pathway. Hedgehog signaling is important in embryonic development and tumorigenesis. The encoded ...

Pfam Domains

TRA2_Naa 147–297UCSCTransformer protein 2 N-terminal domain
TRA2_Naa 147–297UCSCTransformer protein 2 N-terminal domain
TRA2_Naa 147–297UCSCTransformer protein 2 N-terminal domain
Sterol-sensingaa 462–616UCSCSterol-sensing domain of SREBP cleavage-activation
Sterol-sensingaa 462–616UCSCSterol-sensing domain of SREBP cleavage-activation

Gene Aliases

HGNC Name

patched 1

HGNC Previous Symbol

NBCCS

Papers
RefSeq ID
Protein change
DNA change
1–12 of 3574 variants
79 papers
NM_000264.5
p.P1315L
c.3944C>T
38 papers
NM_000264.5
p.T1195S
c.3583A>T
25 papers
NM_000264.5
p.A562A
c.1686C>T
24 papers
NM_000264.5
p.S827G
c.2479A>G
23 papers
NM_000264.5
p.S1203fs
c.3607_3608fs
21 papers
NM_000264.5
p.P725S
c.2173C>T
21 papers
NM_000264.5
p.T1052M
c.3155C>T
20 papers
NM_000264.5
p.T416S
c.1247C>G
20 papers
NM_000264.5
p.A741V
c.2222C>T
19 papers
NM_000264.5
p.T416S
c.1246A>T
19 papers
NM_000264.5
p.G509V
c.1526G>T
19 papers
NM_000264.5
p.R893H
c.2678G>A
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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."