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

3 papers

NM_000264.5

p.H671insFs

c.2011_2012dupCA

Surrounding Variants

5 papers

NM_000264.5

p.T672M

c.2015C>T

1 paper

NM_000264.5

p.H673fs

c.2017_2018fs

1 paper

NM_000264.5

p.H673H

c.2019C>T

2 papers

NM_000264.5

p.H671insFs

c.2012dupA

1 paper

NM_000264.5

p.V674L

c.2020G>T

1 paper

NM_000264.5

p.V674L

c.2020G>C

1 paper

NM_000264.5

p.V674fs

c.2020_2021fs

1 paper

NM_000264.5

p.H673delFs

c.2019delG

2 papers

NM_000264.5

p.H671insFs

c.2011dupC

5 papers

NM_000264.5

p.H671delFs

c.2011delG

1 paper

NM_000264.5

p.H671Y

c.2011C>T

6 papers

NM_000264.5

p.H671fs

c.2011_2012fs