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.P689Fs

c.2067delinsTGTFs

Surrounding Variants

4 papers

NM_000264.5

p.V690I

c.2068G>A

4 papers

NM_000264.5

p.P689L

c.2066C>T

1 paper

NM_000264.5

p.V690V

c.2070C>A

2 papers

NM_000264.5

p.T691fs

c.2071_2072fs

8 papers

NM_000264.5

p.Q688*

c.2062C>T

1 paper

NM_000264.5

p.V687delFs

c.2060_2061delCA

1 paper

NM_000264.5

p.V687fs

c.2059_2060fs

1 paper

NM_001083603.3

p.T690insFs

c.2069dupC

2 papers

NM_000264.5

p.V692L

c.2074G>C

3 papers

NM_000264.5

p.V692M

c.2074G>A

1 paper

NM_000264.5

p.V692E

c.2075T>A

1 paper

NM_000264.5

p.V687L

c.2059G>C