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.H817Y

c.2449C>T

Surrounding Variants

3 papers

NM_000264.5

p.Q816_H817del1

c.2448_2450delTGC

1 paper

NM_000264.5

p.Q816L

c.2447A>T

2 papers

NM_000264.5

p.Q816R

c.2447A>G

1 paper

NM_000264.5

p.I815_Q816insFs

c.2445_2446ins8

1 paper

NM_000264.5

p.Y812_H817delFs

c.2436_2451del16

5 papers

NM_000264.5

p.Q816*

c.2446C>T

1 paper

NM_000264.5

p.Y812_I815del4

c.2434_2444del12

1 paper

NM_000264.5

p.L818*

c.2453T>G

1 paper

NM_000264.5

p.L818*

c.2453T>A

2 papers

NM_000264.5

p.I815N

c.2444T>A

2 papers

NM_000264.5

p.L818fs

c.2452_2453fs

1 paper

NM_000264.5

p.L818delFs

c.2453delA