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

2 papers

NM_000264.5

p.D1405H

c.4213G>C

Surrounding Variants

2 papers

NM_000264.5

p.D1405N

c.4213G>A

1 paper

NM_000264.5

p.Y1401_T1404delFs

c.4203_4210del8

2 papers

NM_000264.5

p.N1392_D1405del14

c.4174_4214del42

6 papers

NM_000264.5

p.T1404A

c.4210A>G

1 paper

NM_000264.5

p.E1403D

c.4209G>T

1 paper

NM_000264.5

p.E1403D

c.4209G>C

1 paper

NM_000264.5

p.E1403G

c.4208A>G

1 paper

NM_000264.5

p.G1407C

c.4219G>T

1 paper

NM_000264.5

p.E1403*

c.4207G>T

1 paper

NM_000264.5

p.G1407_L1408insTG

c.4219_4223ins6

2 papers

NM_000264.5

p.G1407S

c.4219G>A

1 paper

NM_000264.5

p.L1408L

c.4222C>T