Varaico: Literature-Extracted Genetic Variants

Gene:PTCH2
Variant:p.A1052S

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.A1052S
c.3154G>T
Surrounding Variants
1 paper
NM_003738.5
p.A1052T
c.3154G>A
1 paper
NM_003738.5
p.R1050Q
c.3149G>A
2 papers
NM_003738.5
p.R1050W
c.3148C>T
1 paper
NM_003738.5
p.R1047W
c.3139C>T
1 paper
NM_003738.5
p.P1061P
c.3183C>T
2 papers
NM_003738.5
p.V1062M
c.3184G>A
1 paper
NM_003738.5
p.V1062A
c.3185T>C
2 papers
NM_003738.5
p.D1064N
c.3190G>A
1 paper
NM_003738.5
p.D1064_G1065insFs
c.3192_3193ins37
1 paper
NM_003738.5
p.L1038_G1039Splc
c.3115-5C>T
1 paper
NM_003738.5
p.L1070F
c.3210G>T
1 paper
NM_003738.5
p.L1070F
c.3210G>C
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