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.F757S

c.2270T>C

Surrounding Variants

1 paper

NM_000264.5

p.L758L

c.2272C>T

1 paper

NM_000264.5

p.L756F

c.2266C>T

1 paper

NM_000264.5

p.F755fs

c.2263_2264fs

1 paper

NM_000264.5

p.V751_G759del0

c.2253_2276del24

1 paper

NM_000264.5

p.G762W

c.2284G>T

1 paper

NM_000264.5

p.G762R

c.2284G>C

1 paper

NM_000264.5

p.G762R

c.2284G>A

1 paper

NM_000264.5

p.V752delFs

c.2255delA

2 papers

NM_000264.5

p.V752M

c.2254G>A

1 paper

NM_000264.5

p.V763F

c.2287G>T

3 papers

NM_000264.5

p.V763I

c.2287G>A

2 papers

NM_000264.5

p.V763fs

c.2287_2288fs