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.G1329_R1336del8

c.3985_4007del24

Surrounding Variants

2 papers

NM_000264.5

p.R1338C

c.4012C>T

3 papers

NM_000264.5

p.R1338_W1339insGCG

c.4012_4016ins9

1 paper

NM_000264.5

p.R1338H

c.4013G>A

1 paper

NM_000264.5

p.A1337delFs

c.4010delG

1 paper

NM_000264.5

p.R1338_W1339insFs

c.4014_4015insT

3 papers

NM_000264.5

p.W1339*

c.4016G>A

3 papers

NM_000264.5

p.W1339*

c.4017G>A

1 paper

NM_000264.5

p.P1333_S1334del2

c.3997_4001del6

1 paper

NM_000264.5

p.G1340S

c.4018G>A

1 paper

NM_000264.5

p.S1334N

c.4001G>A

2 papers

NM_000264.5

p.P1341S

c.4021C>T

1 paper

NM_000264.5

p.P1341A

c.4021C>G