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

3 papers

NM_000264.5

p.V103I

c.307G>A

Surrounding Variants

1 paper

NM_000264.5

p.V103insFs

c.307_308ins4

1 paper

NM_000264.5

p.V103D

c.308T>A

2 papers

NM_000264.5

p.V103delFs

c.307delC

1 paper

NM_000264.5

p.L102L

c.306G>A

1 paper

NM_000264.5

p.L102delFs

c.304delA

1 paper

NM_000264.5

p.V103fs

c.307_308fs

3 papers

NM_000264.5

p.L102*

c.305T>A

1 paper

NM_000264.5

p.L102M

c.304T>A

1 paper

NM_000264.5

p.V104L

c.310G>T

1 paper

NM_000264.5

p.V104M

c.310G>A

1 paper

NM_000264.5

p.V104fs

c.310_311fs

1 paper

NM_000264.5

p.V104insFs

c.310dupG