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.L697L

c.2091C>T

Surrounding Variants

1 paper

NM_000264.5

p.L697L

c.2091C>G

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.S697delFs

c.2089delT

3 papers

NM_000264.5

p.Q700*

c.2098C>T

1 paper

NM_001083603.3

p.C698insFs

c.2093_2094dupGC

1 paper

NM_000264.5

p.Q694H

c.2082G>T

1 paper

NM_000264.5

p.Q700_S701insFs

c.2100_2101insC

1 paper

NM_000264.5

p.Q694H

c.2082G>C

1 paper

NM_000264.5

p.S701insFs

c.2102_2103insAG

3 papers

NM_000264.5

p.Q694*

c.2080C>T

1 paper

NM_000264.5

p.Q694E

c.2080C>G