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.S985*

c.2954C>A

Surrounding Variants

1 paper

NM_000264.5

p.S985*

c.2954C>G

1 paper

NM_000264.5

p.F974_S985delFs

c.2922_2953del32

1 paper

NM_000264.5

p.D986Y

c.2956G>T

1 paper

NM_000264.5

p.D986insFs

c.2956_2957insC

1 paper

NM_000264.5

p.D986N

c.2956G>A

1 paper

NM_000264.5

p.D986fs

c.2956_2957fs

1 paper

NM_000264.5

p.T984S

c.2951C>G

1 paper

NM_000264.5

p.T984S

c.2950A>T

1 paper

NM_000264.5

p.F987S

c.2960T>C

1 paper

NM_000264.5

p.F987insFs

c.2960_2961dupTT

1 paper

NM_000264.5

p.V988fs

c.2962_2963fs

1 paper

NM_000264.5

p.V988insFs

c.2962dupG