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.G110G

c.330G>A

Surrounding Variants

1 paper

NM_000264.5

p.G110V

c.329G>T

2 papers

NM_000264.5

p.G110E

c.329G>A

1 paper

NM_000264.5

p.A111fs

c.331_332fs

3 papers

NM_000264.5

p.G110W

c.328G>T

1 paper

NM_000264.5

p.G110_A111insCC

c.328_332ins6

1 paper

NM_000264.5

p.G110R

c.328G>C

1 paper

NM_000264.5

p.G110R

c.328G>A

1 paper

NM_000264.5

p.A111V

c.332C>T

4 papers

NM_000264.5

p.A111delFs

c.331delC

1 paper

NM_000264.5

p.F109fs

c.325_326fs

1 paper

NM_000264.5

p.I108_A111del4

c.322_332del12

1 paper

NM_000264.5

p.F109_G110ins4

c.325_329ins12