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.H823R

c.2468A>G

Surrounding Variants

1 paper

NM_000264.5

p.L819_L822del4

c.2455_2465del12

1 paper

NM_000264.5

p.H823N

c.2467C>A

2 papers

NM_000264.5

p.L822insFs

c.2465dupT

1 paper

NM_000264.5

p.L822insFs

c.2464dupC

3 papers

NM_000264.5

p.L822P

c.2465T>C

1 paper

NM_000264.5

p.L822insFs

c.2464_2465insA

1 paper

NM_000264.5

p.D821A

c.2462A>C

2 papers

NM_000264.5

p.I815_D821del0

c.2444_2461del18

4 papers

NM_000264.5

p.D821N

c.2461G>A

1 paper

NM_000264.5

p.Y820delFs

c.2460delG

3 papers

NM_000264.5

p.Y820*

c.2460C>G

2 papers

NM_000264.5

p.Y820*

c.2460C>A