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.Y873insFs

c.2617_2618insT

Surrounding Variants

9 papers

NM_000264.5

p.Y873*

c.2619C>G

11 papers

NM_000264.5

p.Y873*

c.2619C>A

1 paper

NM_000264.5

p.Y873fs

c.2617_2618fs

3 papers

NM_000264.5

p.N871_N872delFs

c.2612_2615del4

1 paper

NM_000264.5

p.K874*

c.2620A>T

1 paper

NM_000264.5

p.K874_N875insA

c.2620_2624ins3

1 paper

NM_000264.5

p.N872S

c.2615A>G

1 paper

NM_000264.5

p.N872H

c.2614A>C

1 paper

NM_000264.5

p.N872_Y873insC

c.2614_2618ins3

4 papers

NM_000264.5

p.N871delFs

c.2613delG

1 paper

NM_000264.5

p.N871K

c.2613C>G

1 paper

NM_000264.5

p.N871fs

c.2611_2612fs