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_001083602.3

p.A1142S

c.3424G>T

Surrounding Variants

1 paper

NM_000264.5

p.A1208T

c.3622G>A

1 paper

NM_000264.5

p.F1207_A1208ins5

c.3619_3623ins15

1 paper

NM_000264.5

p.M1209_P1210insTG

c.3625_3629ins6

6 papers

NM_000264.5

p.R1206H

c.3617G>A

1 paper

NM_000264.5

p.R1206C

c.3616C>T

1 paper

NM_000264.5

p.P1210A

c.3628C>G

1 paper

NM_000264.5

p.R1206G

c.3616C>G

2 papers

NM_000264.5

p.A1208_M1209del2

c.3622_3626del6

1 paper

NM_000264.5

p.V1205A

c.3614T>C

1 paper

NM_000264.5

p.P1210_P1211insFs

c.3630_3631insTA

1 paper

NM_000264.5

p.P1210delFs

c.3628_3629delGG

2 papers

NM_000264.5

p.P1211S

c.3631C>T