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.K750N

c.2250G>T

Surrounding Variants

2 papers

NM_000264.5

p.K750N

c.2250G>C

1 paper

NM_000264.5

p.K750_V751Splc

c.2250+1G>T

1 paper

NM_000264.5

p.K750_V751Splc

c.2250+1G>A

1 paper

NM_000264.5

p.K746_K750del0

c.2236_2250del15

1 paper

NM_000264.5

p.P747_A749del0

c.2239_2247del9

1 paper

NM_000264.5

p.L745_A749del0

c.2233_2247del15

2 papers

NM_000264.5

p.A749fs

c.2245_2246fs

1 paper

NM_000264.5

p.A749V

c.2246C>T

3 papers

NM_000264.5

p.K748delFs

c.2244delT

1 paper

NM_000264.5

p.K746_P747del2

c.2236_2240del6

1 paper

NM_000264.5

p.P747L

c.2240C>T

1 paper

NM_000264.5

p.E737_K746delFs

c.2211_2238del28