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

2 papers

NM_000264.5

p.R770_V771delFs

c.2309_2312del4

Surrounding Variants

1 paper

NM_000264.5

p.R772K

c.2315G>A

1 paper

NM_000264.5

p.G774ins2

c.2320_2321ins6

1 paper

NM_000264.5

p.D773_G774ins1

c.2319_2320insCAC

1 paper

NM_000264.5

p.G774insFs

c.2320_2321insA

2 papers

NM_000264.5

p.G774R

c.2320G>C

2 papers

NM_000264.5

p.G774R

c.2320G>A

1 paper

NM_000264.5

p.G774V

c.2321G>T

1 paper

NM_000264.5

p.V771ins3

c.2311_2312ins9

1 paper

NM_000264.5

p.V771M

c.2311G>A

2 papers

NM_000264.5

p.V771fs

c.2311_2312fs

1 paper

NM_000264.5

p.R770_V771ins1

c.2310_2311insGGT

1 paper

NM_000264.5

p.L775M

c.2323C>A