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.F859fs

c.2575_2576fs

Surrounding Variants

1 paper

NM_000264.5

p.F859fs

c.2575_2576fs

1 paper

NM_000264.5

p.S861fs

c.2581_2582fs

1 paper

NM_000264.5

p.A858insFs

c.2573_2574ins4

1 paper

NM_000264.5

p.A858_F859ins4

c.2572_2576ins12

1 paper

NM_000264.5

p.S861fs

c.2581_2582fs

2 papers

NM_000264.5

p.S861delFs

c.2582delC

1 paper

NM_000264.5

p.D862Y

c.2584G>T

4 papers

NM_000264.5

p.F859_S861delFs

c.2577_2583del7

2 papers

NM_000264.5

p.D857N

c.2569G>A

1 paper

NM_000264.5

p.Q856Q

c.2568G>A

1 paper

NM_000264.5

p.Q856delFs

c.2566delG

3 papers

NM_000264.5

p.W863*

c.2588G>A