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

4 papers

NM_000264.5

p.L765H

c.2294T>A

Surrounding Variants

1 paper

NM_000264.5

p.L765F

c.2293C>T

1 paper

NM_000264.5

p.S764S

c.2292C>T

1 paper

NM_000264.5

p.Y766_G767insFs

c.2298_2299insC

1 paper

NM_000264.5

p.S764G

c.2290A>G

2 papers

NM_000264.5

p.G767insFs

c.2299_2300insC

1 paper

NM_000264.5

p.G767R

c.2299G>C

2 papers

NM_000264.5

p.V763V

c.2289C>T

1 paper

NM_000264.5

p.V763insFs

c.2288dupT

1 paper

NM_000264.5

p.V763insFs

c.2287dupG

1 paper

NM_000264.5

p.V763G

c.2288T>G

3 papers

NM_000264.5

p.V763delFs

c.2287delC

1 paper

NM_000264.5

p.V763F

c.2287G>T