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.S701insFs

c.2102_2103insAG

Surrounding Variants

1 paper

NM_000264.5

p.S701fs

c.2101_2102fs

1 paper

NM_000264.5

p.Q700_S701insFs

c.2100_2101insC

1 paper

NM_000264.5

p.P702insFs

c.2104_2105insA

1 paper

NM_000264.5

p.P702fs

c.2104_2105fs

1 paper

NM_000264.5

p.P702L

c.2105C>T

1 paper

NM_000264.5

p.P702R

c.2105C>G

3 papers

NM_000264.5

p.Q700*

c.2098C>T

1 paper

NM_001083603.3

p.C698insFs

c.2093_2094dupGC

2 papers

NM_000264.5

p.E703*

c.2107G>T

1 paper

NM_000264.5

p.P702delFs

c.2105_2106delTG

1 paper

NM_000264.5

p.E703insFs

c.2107dupG

1 paper

NM_001083603.3

p.S697delFs

c.2089delT