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.P642_P643ins10

c.1924_1928ins30

Surrounding Variants

1 paper

NM_000264.5

p.P641L

c.1922C>T

1 paper

NM_000264.5

p.P641R

c.1922C>G

5 papers

NM_000264.5

p.P642insFs

c.1925dupC

2 papers

NM_000264.5

p.P643fs

c.1927_1928fs

1 paper

NM_000264.5

p.P641S

c.1921C>T

1 paper

NM_000264.5

p.P641A

c.1921C>G

1 paper

NM_000264.5

p.S640R

c.1920C>G

1 paper

NM_000264.5

p.S640R

c.1920C>A

2 papers

NM_000264.5

p.P644S

c.1930C>T

1 paper

NM_000264.5

p.S640R

c.1918A>C

1 paper

NM_000264.5

p.P644L

c.1931C>T

2 papers

NM_000264.5

p.Y639F

c.1916A>T