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.D898H

c.2692G>C

Surrounding Variants

9 papers

NM_000264.5

p.D898N

c.2692G>A

1 paper

NM_000264.5

p.I897I

c.2691C>T

1 paper

NM_000264.5

p.P896_D898delFs

c.2686_2692del7

2 papers

NM_000264.5

p.I899V

c.2695A>G

1 paper

NM_000264.5

p.I897V

c.2689A>G

1 paper

NM_000264.5

p.P896delFs

c.2688delG

2 papers

NM_000264.5

p.P896L

c.2687C>T

1 paper

NM_000264.5

p.P896_I897insT

c.2686_2690ins3

1 paper

NM_000264.5

p.P896fs

c.2686_2687fs

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.R893_D894insFs

c.2677_2680dup4