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.N1351_P1352ins4

c.4051_4055ins12

Surrounding Variants

1 paper

NM_000264.5

p.N1351D

c.4051A>G

1 paper

NM_000264.5

p.N1351_P1352insGG

c.4051_4055ins6

11 papers

NM_000264.5

p.R1350W

c.4048C>T

NM_001354918.2

p.R1298W

c.3892C>T

1 paper

NM_000264.5

p.R1350_N1351insG

c.4048_4052ins3

1 paper

NM_000264.5

p.P1349P

c.4047T>A

1 paper

NM_000264.5

p.P1349R

c.4046C>G

2 papers

NM_000264.5

p.N1348_R1350del3

c.4042_4049del9

1 paper

NM_000264.5

p.A1353V

c.4058C>T

1 paper

NM_000264.5

p.T1355I

c.4064C>T

1 paper

NM_000264.5

p.T1355ins1

c.4064_4065insCAT

2 papers

NM_000264.5

p.G1343_R1345del3

c.4027_4034del9

2 papers

NM_000264.5

p.R1342_R1345del4

c.4024_4034del12