Varaico: Literature-Extracted Genetic Variants

Gene:PTCH2
Variant:p.E365G

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.E365G
c.1094A>G
Surrounding Variants
1 paper
NM_003738.5
p.E365delFs
c.1093delC
1 paper
NM_003738.5
p.E365*
c.1093G>T
1 paper
NM_003738.5
p.E365_A366ins5
c.1093_1097ins15
1 paper
NM_003738.5
p.Q361_L362Splc
c.1084-1G>T
1 paper
NM_003738.5
p.Q373*
c.1117C>T
1 paper
NM_003738.5
p.Q374*
c.1120C>T
1 paper
NM_003738.5
p.S372_Q373del2
c.1114_1118del6
1 paper
NM_003738.5
p.S379T
c.1135T>A
1 paper
NM_003738.5
p.T381I
c.1142C>T
1 paper
NM_003738.5
p.D385N
c.1153G>A
1 paper
NM_003738.5
p.I386F
c.1156A>T
1 paper
NM_003738.5
p.A389V
c.1166C>T
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."