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.I94insFs

c.280_281insA

Surrounding Variants

1 paper

NM_000264.5

p.I94S

c.281T>G

2 papers

NM_000264.5

p.I94_Q95insFs

c.282_283insA

1 paper

NM_000264.5

p.I94fs

c.280_281fs

2 papers

NM_000264.5

p.I94V

c.280A>G

3 papers

NM_000264.5

p.Y93delFs

c.279delG

2 papers

NM_000264.5

p.Q95*

c.283C>T

6 papers

NM_000264.5

p.Y93*

c.279C>G

1 paper

NM_000264.5

p.Q95insFs

c.283_284insA

1 paper

NM_000264.5

p.Y93insFs

c.278dupA

7 papers

NM_000264.5

p.Y93*

c.279C>A

3 papers

NM_000264.5

p.Y93delFs

c.278delT

1 paper

NM_000264.5

p.Q95fs

c.283_284fs