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.P627A

c.1879C>G

Surrounding Variants

2 papers

NM_000264.5

p.Q628*

c.1882C>T

1 paper

NM_000264.5

p.E626fs

c.1876_1877fs

1 paper

NM_000264.5

p.V625_E626insAA

c.1873_1877ins6

1 paper

NM_000264.5

p.A629A

c.1887C>A

1 paper

NM_000264.5

p.Y630F

c.1889A>T

1 paper

NM_000264.5

p.Y630S

c.1889A>C

1 paper

NM_000264.5

p.V622A

c.1865T>C

2 papers

NM_000264.5

p.R621_V622delFs

c.1863_1864delCT

1 paper

NM_000264.5

p.V622L

c.1864G>T

2 papers

NM_000264.5

p.T631insFs

c.1893dupC

1 paper

NM_000264.5

p.D632H

c.1894G>C

1 paper

NM_000264.5

p.V622L

c.1864G>C