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.Q694H

c.2082G>T

Surrounding Variants

1 paper

NM_000264.5

p.Q694H

c.2082G>C

3 papers

NM_000264.5

p.Q694*

c.2080C>T

1 paper

NM_000264.5

p.Q694E

c.2080C>G

1 paper

NM_000264.5

p.T693fs

c.2077_2078fs

1 paper

NM_000264.5

p.V692E

c.2075T>A

2 papers

NM_000264.5

p.L697R

c.2090T>G

1 paper

NM_000264.5

p.R682_T696del15

c.2044_2087del45

1 paper

NM_001083603.3

p.T690insFs

c.2069dupC

2 papers

NM_000264.5

p.V692L

c.2074G>C

3 papers

NM_000264.5

p.V692M

c.2074G>A

2 papers

NM_000264.5

p.L697L

c.2091C>T

1 paper

NM_000264.5

p.L697L

c.2091C>G