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.G1005W

c.3013G>T

Surrounding Variants

2 papers

NM_000264.5

p.G1005insFs

c.3014_3015insA

1 paper

NM_000264.5

p.L1004insFs

c.3011_3012insCT

1 paper

NM_000264.5

p.L1006fs

c.3016_3017fs

3 papers

NM_000264.5

p.L1006delFs

c.3016delG

2 papers

NM_000264.5

p.S1003N

c.3008G>A

2 papers

NM_000264.5

p.N1000_S1003delFs

c.3000_3007del8

1 paper

NM_000264.5

p.T1002_S1003insFs

c.3006_3007insT

1 paper

NM_000264.5

p.T1002fs

c.3004_3005fs

3 papers

NM_000264.5

p.N1000_T1002del0

c.3000_3005del6

1 paper

NM_001354918.2

p.T950M

c.2849C>T

1 paper

NM_000264.5

p.T1002insFs

c.3005_3006insGG

1 paper

NM_000264.5

p.Y1001_T1002insFs

c.3003_3004dupTA