Varaico: Literature-Extracted Genetic Variants

Gene:PTCH2
Variant:p.A685A

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
6 papers
NM_003738.5
p.A685A
c.2055T>C
Surrounding Variants
1 paper
NM_003738.5
p.Q682*
c.2044C>T
1 paper
NM_003738.5
p.A677V
c.2030C>T
1 paper
NM_003738.5
p.Y674*
c.2022T>G
1 paper
NM_003738.5
p.Y674*
c.2022T>A
1 paper
NM_003738.5
p.R673delFs
c.2019delG
3 papers
NM_003738.5
p.R673L
c.2018G>T
1 paper
NM_003738.5
p.A672T
c.2014G>A
1 paper
NM_003738.5
p.F671F
c.2013C>T
1 paper
NM_003738.5
p.F671insFs
c.2011_2012dupTT
2 papers
NM_003738.5
p.R665C
c.1993C>T
1 paper
NM_003738.5
p.A664T
c.1990G>A
1 paper
NM_003738.5
p.T652_R653delFs
c.1954_1958del5
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