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.A546T

c.1636G>A

Surrounding Variants

1 paper

NM_000264.5

p.A546P

c.1636G>C

1 paper

NM_000264.5

p.A546A

c.1638C>T

1 paper

NM_000264.5

p.G545R

c.1633G>C

1 paper

NM_000264.5

p.G545R

c.1633G>A

2 papers

NM_000264.5

p.S547C

c.1639A>T

1 paper

NM_000264.5

p.S547insFs

c.1639_1640insA

10 papers

NM_000264.5

p.S547S

c.1641C>T

1 paper

NM_000264.5

p.T544K

c.1631C>A

3 papers

NM_000264.5

p.V548M

c.1642G>A

1 paper

NM_000264.5

p.R543H

c.1628G>A

1 paper

NM_000264.5

p.R543G

c.1627C>G

1 paper

NM_000264.5

p.K542delFs

c.1625_1626delCT