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.M803I

c.2409G>T

Surrounding Variants

1 paper

NM_000264.5

p.M803I

c.2409G>C

1 paper

NM_000264.5

p.M803I

c.2409G>A

2 papers

NM_000264.5

p.Y804fs

c.2410_2411fs

2 papers

NM_000264.5

p.Y804delFs

c.2411delT

1 paper

NM_000264.5

p.I805L

c.2413A>T

4 papers

NM_000264.5

p.N802S

c.2405A>G

1 paper

NM_000264.5

p.I805L

c.2413A>C

2 papers

NM_000264.5

p.I805R

c.2414T>G

1 paper

NM_000264.5

p.V806F

c.2416G>T

1 paper

NM_000264.5

p.V806fs

c.2416_2417fs

1 paper

NM_000264.5

p.Y801S

c.2402A>C

1 paper

NM_000264.5

p.F800fs

c.2398_2399fs