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.I791_A792insFs

c.2373_2374insG

Surrounding Variants

1 paper

NM_000264.5

p.A793S

c.2377G>T

1 paper

NM_000264.5

p.F790_I791insT

c.2368_2372ins3

1 paper

NM_000264.5

p.Q794*

c.2380C>T

1 paper

NM_000264.5

p.D789N

c.2365G>A

1 paper

NM_000264.5

p.Y788delFs

c.2364delA

1 paper

NM_000264.5

p.Y788*

c.2364T>G

1 paper

NM_000264.5

p.Y788*

c.2364T>A

1 paper

NM_000264.5

p.F795insFs

c.2383_2384ins4

1 paper

NM_000264.5

p.F795L

c.2383T>C

1 paper

NM_000264.5

p.Y788delFs

c.2362delA

1 paper

NM_000264.5

p.Y788D

c.2362T>G

1 paper

NM_000264.5

p.F795L

c.2385C>G