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.T678_A679insFs

c.2034_2035insCA

Surrounding Variants

1 paper

NM_000264.5

p.A679fs

c.2035_2036fs

1 paper

NM_000264.5

p.A679G

c.2036C>G

2 papers

NM_000264.5

p.T678I

c.2033C>T

1 paper

NM_000264.5

p.T677fs

c.2029_2030fs

3 papers

NM_000264.5

p.T677delFs

c.2029delT

2 papers

NM_000264.5

p.P681S

c.2041C>T

1 paper

NM_000264.5

p.T677A

c.2029A>G

3 papers

NM_000264.5

p.P681L

c.2042C>T

2 papers

NM_000264.5

p.P681R

c.2042C>G

1 paper

NM_000264.5

p.Y676*

c.2028C>A

1 paper

NM_000264.5

p.H671_E680delFs

c.2013_2040del28

1 paper

NM_000264.5

p.R682C

c.2044C>T