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.N1392insFs

c.4175_4176insCA

Surrounding Variants

1 paper

NM_000264.5

p.N1392S

c.4175A>G

1 paper

NM_000264.5

p.N1392insFs

c.4175_4176insT

2 papers

NM_000264.5

p.N1392N

c.4176C>T

1 paper

NM_000264.5

p.P1393S

c.4177C>T

1 paper

NM_000264.5

p.R1391P

c.4172G>C

4 papers

NM_000264.5

p.R1391Q

c.4172G>A

4 papers

NM_000264.5

p.R1391W

c.4171C>T

1 paper

NM_000264.5

p.R1391R

c.4171C>A

4 papers

NM_000264.5

p.R1394*

c.4180C>T

1 paper

NM_000264.5

p.R1394fs

c.4180_4181fs

1 paper

NM_000264.5

p.R1394L

c.4181G>T

3 papers

NM_000264.5

p.R1394Q

c.4181G>A