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.R665C

c.1993C>T

Surrounding Variants

2 papers

NM_000264.5

p.R665H

c.1994G>A

2 papers

NM_000264.5

p.L664fs

c.1990_1991fs

1 paper

NM_000264.5

p.L664fs

c.1990_1991fs

1 paper

NM_000264.5

p.R665delFs

c.1995delG

1 paper

NM_000264.5

p.Q663H

c.1989G>T

1 paper

NM_000264.5

p.Q663H

c.1989G>C

3 papers

NM_000264.5

p.T666M

c.1997C>T

1 paper

NM_000264.5

p.T666fs

c.1996_1997fs

3 papers

NM_000264.5

p.E667*

c.1999G>T

5 papers

NM_000264.5

p.Q663*

c.1987C>T

1 paper

NM_000264.5

p.V662_Q663delins

c.1986_1987delinsTT

2 papers

NM_000264.5

p.E667insFs

c.2000_2001insC