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.Y1009fs

c.3025_3026fs

Surrounding Variants

1 paper

NM_000264.5

p.Y1009insFs

c.3025dupT

1 paper

NM_000264.5

p.Y1009Y

c.3027C>T

4 papers

NM_000264.5

p.Y1009*

c.3027C>G

2 papers

NM_000264.5

p.Y1009insFs

c.3026dupA

4 papers

NM_000264.5

p.Y1009*

c.3027C>A

1 paper

NM_000264.5

p.P1010insFs

c.3029_3030insT

1 paper

NM_000264.5

p.P1010fs

c.3028_3029fs

1 paper

NM_000264.5

p.N1011fs

c.3031_3032fs

3 papers

NM_000264.5

p.P1010delFs

c.3030delG

3 papers

NM_000264.5

p.L1006delFs

c.3016delG

6 papers

NM_000264.5

p.G1012S

c.3034G>A

1 paper

NM_000264.5

p.L1006fs

c.3016_3017fs