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.L711delFs

c.2132delA

Surrounding Variants

1 paper

NM_000264.5

p.D710N

c.2128G>A

1 paper

NM_000264.5

p.S713F

c.2138C>T

1 paper

NM_000264.5

p.R709fs

c.2125_2126fs

1 paper

NM_000264.5

p.R709K

c.2126G>A

1 paper

NM_000264.5

p.R709delFs

c.2125delT

5 papers

NM_000264.5

p.Q714*

c.2140C>T

1 paper

NM_000264.5

p.S713_Q714delins

c.2139_2140delinsTT

1 paper

NM_000264.5

p.F715V

c.2143T>G

5 papers

NM_000264.5

p.F715L

c.2143T>C

2 papers

NM_000264.5

p.F715L

c.2145C>G

2 papers

NM_000264.5

p.F715L

c.2145C>A

1 paper

NM_000264.5

p.S706_F715del10

c.2116_2144del30