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.R982Q

c.2945G>A

Surrounding Variants

4 papers

NM_000264.5

p.R982W

c.2944C>T

1 paper

NM_000264.5

p.L981insFs

c.2941dupT

1 paper

NM_000264.5

p.T984S

c.2950A>T

1 paper

NM_000264.5

p.T984S

c.2951C>G

2 papers

NM_000264.5

p.G980S

c.2938G>A

1 paper

NM_000264.5

p.N979N

c.2937C>T

1 paper

NM_000264.5

p.S985*

c.2954C>G

1 paper

NM_000264.5

p.S985*

c.2954C>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.F974_S985delFs

c.2922_2953del32

1 paper

NM_000264.5

p.D986Y

c.2956G>T