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.N979N

c.2937C>T

Surrounding Variants

2 papers

NM_000264.5

p.G980S

c.2938G>A

1 paper

NM_000264.5

p.N979S

c.2936A>G

1 paper

NM_000264.5

p.L978delFs

c.2932_2933delAG

1 paper

NM_000264.5

p.L978F

c.2932C>T

1 paper

NM_000264.5

p.L981insFs

c.2941dupT

4 papers

NM_000264.5

p.R982W

c.2944C>T

1 paper

NM_000264.5

p.Y977insFs

c.2929dupT

1 paper

NM_000264.5

p.Y977insFs

c.2930_2931insTG

1 paper

NM_000264.5

p.R982Q

c.2945G>A

1 paper

NM_000264.5

p.Y977fs

c.2929_2930fs

1 paper

NM_000264.5

p.F976L

c.2928C>G

2 papers

NM_000264.5

p.P975insFs

c.2925dupT