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_000264.5

p.L107I

c.319C>A

Surrounding Variants

10 papers

NM_000264.5

p.L106L

c.318C>T

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.L106F

c.316C>T

1 paper

NM_000264.5

p.L106I

c.316C>A

1 paper

NM_000264.5

p.I108fs

c.322_323fs

1 paper

NM_000264.5

p.I108insFs

c.323_324ins2

2 papers

NM_000264.5

p.I108insFs

c.323_324insGA

1 paper

NM_000264.5

p.L107_I108insFs

c.321_322ins5

1 paper

NM_000264.5

p.I108T

c.323T>C

1 paper

NM_000264.5

p.G105G

c.315C>T

1 paper

NM_000264.5

p.G105fs

c.313_314fs