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.K842R

c.2525A>G

Surrounding Variants

1 paper

NM_000264.5

p.K842T

c.2525A>C

1 paper

NM_000264.5

p.K842fs

c.2524_2525fs

1 paper

NM_000264.5

p.P841_K842insFs

c.2523_2524insG

1 paper

NM_000264.5

p.P841L

c.2522C>T

1 paper

NM_000264.5

p.P841S

c.2521C>T

1 paper

NM_000264.5

p.P841T

c.2521C>A

1 paper

NM_000264.5

p.W844G

c.2530T>G

1 paper

NM_000264.5

p.W844R

c.2530T>C

1 paper

NM_000264.5

p.W844R

c.2530T>A

4 papers

NM_000264.5

p.W844C

c.2532G>T

4 papers

NM_000264.5

p.W844C

c.2532G>C

2 papers

NM_000264.5

p.K838_Q839delFs

c.2513_2516del4