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.I1325F

c.3973A>T

Surrounding Variants

3 papers

NM_000264.5

p.S1326fs

c.3976_3977fs

1 paper

NM_000264.5

p.A1322D

c.3965C>A

1 paper

NM_000264.5

p.E1328K

c.3982G>A

1 paper

NM_000264.5

p.R1320K

c.3959G>A

1 paper

NM_000264.5

p.R1320insFs

c.3958_3959ins4

1 paper

NM_000264.5

p.H1330_S1331insFs

c.3990_3991insG

8 papers

NM_000264.5

p.R1319H

c.3956G>A

2 papers

NM_000264.5

p.R1319C

c.3955C>T

4 papers

NM_000264.5

p.P1318P

c.3954G>A

3 papers

NM_000264.5

p.S1331F

c.3992C>T

3 papers

NM_000264.5

p.S1331C

c.3992C>G

1 paper

NM_000264.5

p.S1331Y

c.3992C>A