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.F795L

c.2385C>A

Surrounding Variants

1 paper

NM_000264.5

p.F795L

c.2385C>G

1 paper

NM_000264.5

p.F795fs

c.2383_2384fs

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.Y797N

c.2389T>A

1 paper

NM_000264.5

p.Q794*

c.2380C>T

1 paper

NM_000264.5

p.Y797*

c.2391C>G

1 paper

NM_000264.5

p.Y797fs

c.2389_2390fs

3 papers

NM_000264.5

p.Y797*

c.2391C>A

2 papers

NM_000264.5

p.F798insFs

c.2392_2393insC

1 paper

NM_000264.5

p.F798fs

c.2392_2393fs

1 paper

NM_000264.5

p.A793S

c.2377G>T