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.L818fs

c.2452_2453fs

Surrounding Variants

1 paper

NM_000264.5

p.L818delFs

c.2453delA

1 paper

NM_000264.5

p.L818*

c.2453T>G

1 paper

NM_000264.5

p.L818*

c.2453T>A

1 paper

NM_000264.5

p.L819fs

c.2455_2456fs

4 papers

NM_000264.5

p.L818insFs

c.2454dupA

2 papers

NM_000264.5

p.N814_L818delFs

c.2442_2452del11

1 paper

NM_000264.5

p.N814_L818del5

c.2440_2453del15

1 paper

NM_000264.5

p.Y812_H817delFs

c.2436_2451del16

1 paper

NM_000264.5

p.L819fs

c.2455_2456fs

3 papers

NM_000264.5

p.Q816_H817del1

c.2448_2450delTGC

1 paper

NM_000264.5

p.L818_L819delFs

c.2454_2457del4

1 paper

NM_000264.5

p.H817Y

c.2449C>T