Varaico: Literature-Extracted Genetic Variants

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

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

Selected Variant

1 paper

NM_001083602.3

p.V38delFs

c.114delC

Surrounding Variants

1 paper

NM_000264.5

p.G105G

c.315C>T

1 paper

NM_000264.5

p.G105fs

c.313_314fs

1 paper

NM_000264.5

p.G105A

c.314G>C

1 paper

NM_000264.5

p.L106F

c.316C>T

1 paper

NM_000264.5

p.L106I

c.316C>A

7 papers

NM_000264.5

p.L106R

c.317T>G

2 papers

NM_000264.5

p.L106P

c.317T>C

1 paper

NM_000264.5

p.G105ins1

c.313_314insAAG

1 paper

NM_000264.5

p.C98_V104delFs

c.292_310del19

10 papers

NM_000264.5

p.L106L

c.318C>T

1 paper

NM_000264.5

p.V104insFs

c.310dupG

1 paper

NM_000264.5

p.V104A

c.311T>C