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.L886fs

c.2656_2657fs

Surrounding Variants

1 paper

NM_000264.5

p.L887fs

c.2659_2660fs

1 paper

NM_000264.5

p.L887delFs

c.2659delG

2 papers

NM_000264.5

p.V888insFs

c.2663dupT

3 papers

NM_000264.5

p.V888fs

c.2662_2663fs

1 paper

NM_000264.5

p.Y884_V888delFs

c.2651_2663del13

2 papers

NM_000264.5

p.Y884*

c.2652C>G

2 papers

NM_000264.5

p.Y884*

c.2652C>A

1 paper

NM_000264.5

p.Q889*

c.2665C>T

1 paper

NM_000264.5

p.Y884fs

c.2650_2651fs

2 papers

NM_000264.5

p.A883A

c.2649C>T

1 paper

NM_000264.5

p.T890A

c.2668A>G

1 paper

NM_000264.5

p.A883S

c.2647G>T