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

2 papers

NM_000264.5

p.V442E

c.1325T>A

Surrounding Variants

2 papers

NM_000264.5

p.V442insFs

c.1325dupT

1 paper

NM_000264.5

p.R441L

c.1322G>T

5 papers

NM_000264.5

p.R441H

c.1322G>A

2 papers

NM_000264.5

p.A443G

c.1328C>G

2 papers

NM_000264.5

p.A443delFs

c.1327delC

2 papers

NM_000264.5

p.R441C

c.1321C>T

1 paper

NM_000264.5

p.A443A

c.1329C>T

1 paper

NM_000264.5

p.I440fs

c.1318_1319fs

1 paper

NM_000264.5

p.V437_A443del0

c.1309_1329del21

1 paper

NM_000264.5

p.I440delFs

c.1318delT

1 paper

NM_000264.5

p.S444fs

c.1330_1331fs

1 paper

NM_000264.5

p.I440F

c.1318A>T