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.A810delFs

c.2430delT

Surrounding Variants

1 paper

NM_000264.5

p.D811Y

c.2431G>T

1 paper

NM_000264.5

p.D811H

c.2431G>C

1 paper

NM_000264.5

p.A810V

c.2429C>T

1 paper

NM_000264.5

p.Y812delFs

c.2435delT

1 paper

NM_000264.5

p.P813fs

c.2437_2438fs

4 papers

NM_000264.5

p.P813A

c.2437C>G

1 paper

NM_000264.5

p.K809*

c.2425A>T

5 papers

NM_000264.5

p.P813L

c.2438C>T

1 paper

NM_000264.5

p.Q808_Y812del5

c.2422_2435del15

1 paper

NM_000264.5

p.Q808R

c.2423A>G

1 paper

NM_000264.5

p.N814fs

c.2440_2441fs

4 papers

NM_000264.5

p.Q808*

c.2422C>T