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.V130M

c.388G>A

Surrounding Variants

1 paper

NM_001083603.3

p.V129L

c.385G>T

1 paper

NM_000264.5

p.W129insFs

c.386dupG

2 papers

NM_000264.5

p.W129insFs

c.385_386dupTG

1 paper

NM_000264.5

p.W129fs

c.385_386fs

9 papers

NM_000264.5

p.W129*

c.387G>A

1 paper

NM_000264.5

p.W129L

c.386G>T

1 paper

NM_000264.5

p.W129insFs

c.385dupT

9 papers

NM_000264.5

p.W129*

c.386G>A

1 paper

NM_000264.5

p.W129R

c.385T>C

1 paper

NM_000264.5

p.W129R

c.385T>A

2 papers

NM_000264.5

p.E131*

c.391G>T

2 papers

NM_000264.5

p.E131K

c.391G>A