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.L1047fs

c.3139_3140fs

Surrounding Variants

10 papers

NM_000264.5

p.L1047L

c.3141T>G

3 papers

NM_000264.5

p.L1047delFs

c.3139delG

1 paper

NM_000264.5

p.L1048fs

c.3142_3143fs

1 paper

NM_000264.5

p.L1048insFs

c.3142_3143ins17

1 paper

NM_000264.5

p.L1047delFs

c.3141delA

1 paper

NM_000264.5

p.L1047fs

c.3139_3140fs

2 papers

NM_000264.5

p.L1047_L1048delFs

c.3139_3142del4

1 paper

NM_000264.5

p.L1048fs

c.3142_3143fs

1 paper

NM_000264.5

p.F1046F

c.3138C>T

1 paper

NM_000264.5

p.V1045delFs

c.3135delG

2 papers

NM_000264.5

p.F1046fs

c.3136_3137fs

3 papers

NM_000264.5

p.N1049I

c.3146A>T