Varaico: Literature-Extracted Genetic Variants

Gene:PTCH2
Variant:p.C444*

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.C444*
c.1332T>A
Surrounding Variants
1 paper
NM_003738.5
p.C444Y
c.1331G>A
1 paper
NM_003738.5
p.G442delFs
c.1326delC
1 paper
NM_003738.5
p.G442W
c.1324G>T
1 paper
NM_003738.5
p.A453P
c.1357G>C
7 papers
NM_003738.5
p.A436V
c.1307C>T
1 paper
NM_003738.5
p.L432_L435Fs
c.1296_1305delinsCACCAFs
1 paper
NM_003738.5
p.L432_A434delFs
c.1296_1300del5
2 papers
NM_003738.5
p.Q457L
c.1370A>T
1 paper
NM_003738.5
p.L431L
c.1293G>A
1 paper
NM_003738.5
p.L427F
c.1279C>T
2 papers
NM_003738.5
p.S424S
c.1272C>T
1 paper
NM_003738.5
p.Q420K
c.1258C>A
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