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.A443_Y446delFs

c.1329_1336del8

Surrounding Variants

2 papers

NM_000264.5

p.Y446*

c.1338C>G

3 papers

NM_000264.5

p.Y446_L447ins1

c.1338_1339insGCG

2 papers

NM_000264.5

p.Y446*

c.1338C>A

1 paper

NM_000264.5

p.L447ins1

c.1339_1340insGCG

1 paper

NM_000264.5

p.G445G

c.1335C>G

1 paper

NM_000264.5

p.G445insFs

c.1333dupG

1 paper

NM_000264.5

p.G445delFs

c.1333_1334delCC

2 papers

NM_000264.5

p.L447fs

c.1339_1340fs

1 paper

NM_000264.5

p.G445S

c.1333G>A

1 paper

NM_000264.5

p.L448F

c.1342C>T

1 paper

NM_000264.5

p.S444fs

c.1330_1331fs

3 papers

NM_000264.5

p.L447insFs

c.1341dupA