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.Y831*

c.2493T>G

Surrounding Variants

1 paper

NM_000264.5

p.Y831*

c.2493T>A

1 paper

NM_000264.5

p.Y831C

c.2492A>G

1 paper

NM_000264.5

p.M833V

c.2497A>G

1 paper

NM_000264.5

p.V829V

c.2487G>C

1 paper

NM_000264.5

p.L834V

c.2500T>G

1 paper

NM_000264.5

p.L834*

c.2501T>A

7 papers

NM_001083607.3

p.V678M

c.2032G>A

NM_000264.5

p.V829M

c.2485G>A

1 paper

NM_000264.5

p.E835*

c.2503G>T

1 paper

NM_000264.5

p.E836*

c.2506G>T

3 papers

NM_000264.5

p.S827N

c.2480G>A

24 papers

NM_000264.5

p.S827G

c.2479A>G

1 paper

NM_000264.5

p.E836A

c.2507A>C