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.G91delFs

c.272delC

Surrounding Variants

1 paper

NM_000264.5

p.G91G

c.273T>G

1 paper

NM_000264.5

p.C92R

c.274T>C

1 paper

NM_000264.5

p.G91fs

c.271_272fs

1 paper

NM_000264.5

p.G91C

c.271G>T

1 paper

NM_000264.5

p.C92S

c.275G>C

1 paper

NM_000264.5

p.C92delFs

c.274delA

1 paper

NM_000264.5

p.L87_G91Fs

c.260_271delinsAAFs

2 papers

NM_000264.5

p.C92*

c.276T>A

1 paper

NM_000264.5

p.L90insFs

c.269_270insT

1 paper

NM_000264.5

p.L90fs

c.268_269fs

1 paper

NM_000264.5

p.Y93N

c.277T>A

1 paper

NM_000264.5

p.Y93fs

c.277_278fs