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.E784K

c.2350G>A

Surrounding Variants

2 papers

NM_000264.5

p.E784*

c.2350G>T

2 papers

NM_000264.5

p.E784D

c.2352A>T

2 papers

NM_000264.5

p.E784D

c.2352A>C

4 papers

NM_000264.5

p.R783W

c.2347C>T

1 paper

NM_000264.5

p.T785insFs

c.2353dupA

1 paper

NM_000264.5

p.P782L

c.2345C>T

1 paper

NM_000264.5

p.T785fs

c.2353_2354fs

1 paper

NM_000264.5

p.P782S

c.2344C>T

1 paper

NM_000264.5

p.R786*

c.2356A>T

1 paper

NM_000264.5

p.R786K

c.2357G>A

1 paper

NM_000264.5

p.E784_T785delFs

c.2351_2355del5

1 paper

NM_000264.5

p.P782_R786delFs

c.2346_2356del11