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

3 papers

NM_000264.5

p.V763delFs

c.2287delC

Surrounding Variants

1 paper

NM_000264.5

p.V763insFs

c.2287dupG

1 paper

NM_000264.5

p.V763G

c.2288T>G

1 paper

NM_000264.5

p.V763F

c.2287G>T

3 papers

NM_000264.5

p.V763I

c.2287G>A

2 papers

NM_000264.5

p.V763V

c.2289C>T

1 paper

NM_000264.5

p.V763insFs

c.2288dupT

2 papers

NM_000264.5

p.V763fs

c.2287_2288fs

1 paper

NM_000264.5

p.S764G

c.2290A>G

1 paper

NM_000264.5

p.G762W

c.2284G>T

1 paper

NM_000264.5

p.G762R

c.2284G>C

1 paper

NM_000264.5

p.G762R

c.2284G>A

1 paper

NM_000264.5

p.S764S

c.2292C>T