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.E836fs

c.2506_2507fs

Surrounding Variants

1 paper

NM_000264.5

p.E836A

c.2507A>C

1 paper

NM_000264.5

p.E836insFs

c.2506dupG

1 paper

NM_000264.5

p.E836*

c.2506G>T

1 paper

NM_000264.5

p.K838insFs

c.2512_2513ins4

2 papers

NM_000264.5

p.K838fs

c.2512_2513fs

1 paper

NM_000264.5

p.E835*

c.2503G>T

1 paper

NM_000264.5

p.K838R

c.2513A>G

1 paper

NM_000264.5

p.L834*

c.2501T>A

4 papers

NM_000264.5

p.Q839*

c.2515C>T

1 paper

NM_000264.5

p.L834V

c.2500T>G

1 paper

NM_000264.5

p.Q839R

c.2516A>G

2 papers

NM_000264.5

p.K838_Q839delFs

c.2513_2516del4