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.D669N

c.2005G>A

Surrounding Variants

1 paper

NM_000264.5

p.E667_Y668del1

c.2001_2003delTAC

1 paper

NM_000264.5

p.E667_Y668Fs

c.2001_2004delinsTTAFs

1 paper

NM_000264.5

p.E667delFs

c.1999_2000delTC

1 paper

NM_000264.5

p.E667fs

c.1999_2000fs

2 papers

NM_000264.5

p.E667insFs

c.2000_2001insC

3 papers

NM_000264.5

p.E667*

c.1999G>T

1 paper

NM_000264.5

p.H671Y

c.2011C>T

6 papers

NM_000264.5

p.H671fs

c.2011_2012fs

1 paper

NM_000264.5

p.T666fs

c.1996_1997fs

2 papers

NM_000264.5

p.H671insFs

c.2011dupC

5 papers

NM_000264.5

p.H671delFs

c.2011delG

3 papers

NM_000264.5

p.T666M

c.1997C>T