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.R85K

c.254G>A

Surrounding Variants

1 paper

NM_000264.5

p.R85fs

c.253_254fs

2 papers

NM_000264.5

p.R85fs

c.253_254fs

1 paper

NM_000264.5

p.A81_R85delFs

c.241_254del14

1 paper

NM_000264.5

p.Q84Q

c.252G>A

3 papers

NM_000264.5

p.R85delFs

c.254_255delTC

2 papers

NM_000264.5

p.Q84L

c.251A>T

14 papers

NM_000264.5

p.Q84*

c.250C>T

1 paper

NM_000264.5

p.L86L

c.258C>T

1 paper

NM_000264.5

p.Q84E

c.250C>G

2 papers

NM_000264.5

p.L86insFs

c.257dupT

1 paper

NM_000264.5

p.L86_L87insFs

c.258_259ins4

2 papers

NM_000264.5

p.L86fs

c.256_257fs