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.V510_G511insFs

c.1530_1531insC

Surrounding Variants

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.G511R

c.1531G>C

4 papers

NM_000264.5

p.V510F

c.1528G>T

1 paper

NM_000264.5

p.V510I

c.1528G>A

20 papers

NM_000264.5

p.G509V

c.1526G>T

NM_001354918.2

p.G457V

c.1370G>T

13 papers

NM_000264.5

p.G509D

c.1526G>A

2 papers

NM_000264.5

p.V512A

c.1535T>C

11 papers

NM_000264.5

p.G509R

c.1525G>C

1 paper

NM_000264.5

p.D513fs

c.1537_1538fs

8 papers

NM_000264.5

p.D513Y

c.1537G>T

1 paper

NM_000264.5

p.D513V

c.1538A>T