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.G880*

c.2638G>T

Surrounding Variants

2 papers

NM_000264.5

p.G880insFs

c.2639dupG

2 papers

NM_000264.5

p.D879delFs

c.2635delC

1 paper

NM_000264.5

p.D879Y

c.2635G>T

2 papers

NM_000264.5

p.D879N

c.2635G>A

1 paper

NM_000264.5

p.D878D

c.2634C>T

1 paper

NM_000264.5

p.D878E

c.2634C>G

1 paper

NM_000264.5

p.D878E

c.2634C>A

1 paper

NM_000264.5

p.V881V

c.2643C>T

1 paper

NM_000264.5

p.V881insFs

c.2641_2642dupGT

1 paper

NM_000264.5

p.V881fs

c.2641_2642fs

1 paper

NM_000264.5

p.D878N

c.2632G>A

1 paper

NM_000264.5

p.S877insFs

c.2630_2631ins4