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

4 papers

NM_000264.5

p.E534_D535Splc

c.1603-2A>C

Surrounding Variants

2 papers

NM_000264.5

p.E534_D535Splc

c.1603-2A>G

3 papers

NM_000264.5

p.E534_D535Splc

c.1603-1G>A

1 paper

NM_000264.5

p.R536W

c.1606A>T

1 paper

NM_001083602.3

p.R470insFs

c.1408_1409ins4

1 paper

NM_000264.5

p.T537T

c.1611C>T

1 paper

NM_000264.5

p.D535_R536delFs

c.1603_1607del5

3 papers

NM_000264.5

p.G538R

c.1612G>C

3 papers

NM_000264.5

p.G538R

c.1612G>A

1 paper

NM_000264.5

p.T537delFs

c.1610_1611delGG

1 paper

NM_001083604.3

p.G387G

c.1161G>A

1 paper

NM_000264.5

p.E539fs

c.1615_1616fs

6 papers

NM_000264.5

p.E539delFs

c.1615delC