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

8 papers

NM_000264.5

p.D513Y

c.1537G>T

Surrounding Variants

1 paper

NM_000264.5

p.D513fs

c.1537_1538fs

1 paper

NM_000264.5

p.D513V

c.1538A>T

2 papers

NM_000264.5

p.V512A

c.1535T>C

1 paper

NM_000264.5

p.D513delFs

c.1538delT

1 paper

NM_000264.5

p.D514N

c.1540G>A

1 paper

NM_000264.5

p.G511R

c.1531G>C

1 paper

NM_000264.5

p.V510_G511insFs

c.1530_1531insC

6 papers

NM_000264.5

p.D514del1

c.1540_1542delATC

2 papers

NM_000264.5

p.V510G

c.1529T>G

2 papers

NM_000264.5

p.V510A

c.1529T>C

1 paper

NM_000264.5

p.F516insFs

c.1546_1547insC

2 papers

NM_000264.5

p.D514_V515del2

c.1540_1544del6