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

14 papers

NM_000264.5

p.Q84*

c.250C>T

Surrounding Variants

1 paper

NM_000264.5

p.Q84E

c.250C>G

1 paper

NM_000264.5

p.F83delFs

c.249delA

1 paper

NM_000264.5

p.K82_F83delFs

c.246_249del4

1 paper

NM_000264.5

p.F83L

c.249T>G

1 paper

NM_000264.5

p.F83L

c.249T>A

2 papers

NM_000264.5

p.Q84L

c.251A>T

1 paper

NM_000264.5

p.Q84Q

c.252G>A

1 paper

NM_000264.5

p.F83V

c.247T>G

1 paper

NM_000264.5

p.F83L

c.247T>C

2 papers

NM_000264.5

p.R85fs

c.253_254fs

1 paper

NM_000264.5

p.K82N

c.246G>T

1 paper

NM_000264.5

p.K82insFs

c.244_245dupAA