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

16 papers

NM_000264.5

p.G854Splc

c.2560+9G>C

Surrounding Variants

3 papers

NM_000264.5

p.G854Splc

c.2560+8G>A

2 papers

NM_000264.5

p.G854Splc

c.2560+7C>T

1 paper

NM_000264.5

p.G854Splc

c.2560+2T>C

2 papers

NM_000264.5

p.G854Splc

c.2560+1G>T

2 papers

NM_000264.5

p.G854Splc

c.2560+1G>A

1 paper

NM_000264.5

p.G854R

c.2560G>A

2 papers

NM_000264.5

p.Q853R

c.2558A>G

5 papers

NM_000264.5

p.Q853*

c.2557C>T

1 paper

NM_000264.5

p.L852fs

c.2554_2555fs

1 paper

NM_000264.5

p.L852fs

c.2554_2555fs

1 paper

NM_000264.5

p.L852F

c.2554C>T

1 paper

NM_000264.5

p.L852insFs

c.2554_2555ins8