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.R1308G

c.3922A>G

Surrounding Variants

1 paper

NM_000264.5

p.R1308*

c.3922A>T

5 papers

NM_000264.5

p.P1307insFs

c.3921dupC

9 papers

NM_000264.5

p.R1308fs

c.3922_3923fs

7 papers

NM_000264.5

p.P1307delFs

c.3921delG

3 papers

NM_000264.5

p.P1307fs

c.3919_3920fs

1 paper

NM_000264.5

p.P1307L

c.3920C>T

10 papers

NM_000264.5

p.R1308fs

c.3922_3923fs

1 paper

NM_000264.5

p.E1309*

c.3925G>T

6 papers

NM_000264.5

p.P1307S

c.3919C>T

2 papers

NM_000264.5

p.P1307A

c.3919C>G

1 paper

NM_000264.5

p.E1309G

c.3926A>G

1 paper

NM_000264.5

p.P1306L

c.3917C>T