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

2 papers

NM_000264.5

p.R893L

c.2678G>T

Surrounding Variants

19 papers

NM_000264.5

p.R893H

c.2678G>A

2 papers

NM_000264.5

p.R893delFs

c.2677delG

1 paper

NM_000264.5

p.R893C

c.2677C>T

2 papers

NM_000264.5

p.R893fs

c.2677_2678fs

2 papers

NM_000264.5

p.D894N

c.2680G>A

1 paper

NM_000264.5

p.R893_D894insFs

c.2677_2680dup4

2 papers

NM_000264.5

p.D894fs

c.2680_2681fs

1 paper

NM_000264.5

p.D894insFs

c.2681_2682ins4

1 paper

NM_000264.5

p.G891fs

c.2671_2672fs

1 paper

NM_000264.5

p.G891delFs

c.2672delC

8 papers

NM_000264.5

p.G891S

c.2671G>A

1 paper

NM_000264.5

p.T890fs

c.2668_2669fs