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_001083604.3

p.V600E

c.1799T>A

Surrounding Variants

2 papers

NM_000264.5

p.V751G

c.2252T>G

1 paper

NM_000264.5

p.V751I

c.2251G>A

2 papers

NM_000264.5

p.V752M

c.2254G>A

1 paper

NM_000264.5

p.K750_V751Splc

c.2251-2A>G

1 paper

NM_000264.5

p.V752delFs

c.2255delA

1 paper

NM_000264.5

p.K750_V751Splc

c.2251-3C>T

2 papers

NM_000264.5

p.K750_V751Splc

c.2251-3C>G

1 paper

NM_000264.5

p.F755fs

c.2263_2264fs

1 paper

NM_000264.5

p.K750_V751Splc

c.2251-13T>A

1 paper

NM_000264.5

p.L756F

c.2266C>T

1 paper

NM_000264.5

p.F757S

c.2270T>C

1 paper

NM_000264.5

p.L758L

c.2272C>T