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.A113V

c.338C>T

Surrounding Variants

1 paper

NM_000264.5

p.A113G

c.338C>G

1 paper

NM_000264.5

p.V114M

c.340G>A

1 paper

NM_000264.5

p.F112_A113del2

c.334_338del6

1 paper

NM_000264.5

p.L107_A113del7

c.319_338del21

1 paper

NM_000264.5

p.F112F

c.336C>T

1 paper

NM_000264.5

p.V114delFs

c.340delC

1 paper

NM_000264.5

p.I108_A111del4

c.322_332del12

1 paper

NM_000264.5

p.G115*

c.343G>T

1 paper

NM_000264.5

p.G115_L116insAAG

c.343_347ins9

1 paper

NM_000264.5

p.A111V

c.332C>T

4 papers

NM_000264.5

p.A111delFs

c.331delC

1 paper

NM_000264.5

p.A111fs

c.331_332fs