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.L90fs

c.268_269fs

Surrounding Variants

1 paper

NM_000264.5

p.L90insFs

c.269_270insT

1 paper

NM_000264.5

p.G91fs

c.271_272fs

1 paper

NM_000264.5

p.G91C

c.271G>T

1 paper

NM_000264.5

p.L87_G91Fs

c.260_271delinsAAFs

1 paper

NM_000264.5

p.L90fs

c.268_269fs

1 paper

NM_000264.5

p.L90L

c.268C>T

1 paper

NM_000264.5

p.L90V

c.268C>G

1 paper

NM_000264.5

p.K89_L90insFs

c.267_268insAA

1 paper

NM_000264.5

p.G91G

c.273T>G

1 paper

NM_000264.5

p.G91delFs

c.272delC

1 paper

NM_000264.5

p.K89insFs

c.265_266ins4

2 papers

NM_000264.5

p.F88_K89delFs

c.262_266del5