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.Y847*

c.2541C>A

Surrounding Variants

1 paper

NM_000264.5

p.Y847*

c.2541C>G

1 paper

NM_000264.5

p.Y847fs

c.2539_2540fs

1 paper

NM_000264.5

p.P841_H846insFs

c.2522_2538dup17

1 paper

NM_000264.5

p.L845_H846insFs

c.2535_2536dupGC

1 paper

NM_000264.5

p.F848del1

c.2542_2543delGAA

2 papers

NM_000264.5

p.L845insFs

c.2535dupG

1 paper

NM_000264.5

p.H846fs

c.2536_2537fs

1 paper

NM_000264.5

p.D850N

c.2548G>A

4 papers

NM_000264.5

p.W844C

c.2532G>T

4 papers

NM_000264.5

p.W844C

c.2532G>C

1 paper

NM_000264.5

p.W844G

c.2530T>G

1 paper

NM_000264.5

p.W844R

c.2530T>C