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.H408_Q409delins

c.1223_1225delinsTTT

Surrounding Variants

1 paper

NM_000264.5

p.Q409*

c.1225C>T

1 paper

NM_000264.5

p.Q409fs

c.1225_1226fs

1 paper

NM_000264.5

p.Q409insFs

c.1226dupA

1 paper

NM_000264.5

p.Q409Q

c.1227G>A

1 paper

NM_000264.5

p.V407_H408del1

c.1220_1222delGAA

1 paper

NM_000264.5

p.S410fs

c.1228_1229fs

1 paper

NM_000264.5

p.V407insFs

c.1220_1221insT

1 paper

NM_000264.5

p.V411I

c.1231G>A

2 papers

NM_000264.5

p.V406delFs

c.1216delC

1 paper

NM_000264.5

p.V411V

c.1233C>T

1 paper

NM_000264.5

p.V411delFs

c.1231_1232delAC

1 paper

NM_000264.5

p.V406_V411del0

c.1217_1231del15