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.L745M

c.2233T>A

Surrounding Variants

1 paper

NM_000264.5

p.K746T

c.2237A>C

1 paper

NM_000264.5

p.K746N

c.2238A>T

1 paper

NM_000264.5

p.K746N

c.2238A>C

1 paper

NM_000264.5

p.E737_K746delFs

c.2211_2238del28

1 paper

NM_000264.5

p.P747L

c.2240C>T

1 paper

NM_000264.5

p.P742S

c.2224C>T

1 paper

NM_000264.5

p.P742_F743insC

c.2224_2228ins3

21 papers

NM_000264.5

p.A741V

c.2222C>T

NM_001354918.2

p.A689V

c.2066C>T

3 papers

NM_000264.5

p.K748delFs

c.2244delT

1 paper

NM_000264.5

p.K746_P747del2

c.2236_2240del6

1 paper

NM_000264.5

p.Y740*

c.2220T>G

1 paper

NM_000264.5

p.Y740*

c.2220T>A