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.Q417K

c.1249C>A

Surrounding Variants

2 papers

NM_000264.5

p.Q417*

c.1249C>T

1 paper

NM_000264.5

p.Q417_K418insA

c.1249_1253ins3

1 paper

NM_000264.5

p.Q417insFs

c.1249_1250insA

2 papers

NM_000264.5

p.Q417fs

c.1249_1250fs

1 paper

NM_000264.5

p.Q417insFs

c.1249dupC

1 paper

NM_000264.5

p.Q417delFs

c.1249delG

20 papers

NM_000264.5

p.T416S

c.1247C>G

1 paper

NM_000264.5

p.T416insFs

c.1247_1248insT

1 paper

NM_000264.5

p.N414_S415del0

c.1240_1245del6

1 paper

NM_000264.5

p.Q417H

c.1251A>T

1 paper

NM_000264.5

p.Q417H

c.1251A>C

19 papers

NM_000264.5

p.T416S

c.1246A>T