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.H739L

c.2216A>T

Surrounding Variants

1 paper

NM_000264.5

p.H739delins

c.2215_2216delinsTT

1 paper

NM_000264.5

p.H739Y

c.2215C>T

1 paper

NM_000264.5

p.Y740_A741insC

c.2218_2222ins3

1 paper

NM_000264.5

p.A736_H739del4

c.2206_2216del12

1 paper

NM_000264.5

p.F735_K738delFs

c.2204_2213del10

1 paper

NM_000264.5

p.Y740*

c.2220T>G

1 paper

NM_000264.5

p.Y740*

c.2220T>A

1 paper

NM_000264.5

p.E737D

c.2211G>T

21 papers

NM_000264.5

p.A741V

c.2222C>T

NM_001354918.2

p.A689V

c.2066C>T

1 paper

NM_000264.5

p.W730_A736delFs

c.2188_2207del20

3 papers

NM_000264.5

p.E737K

c.2209G>A

1 paper

NM_000264.5

p.A736delFs

c.2208delA