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.S433delFs

c.1299delG

Surrounding Variants

1 paper

NM_000264.5

p.S433insFs

c.1299dupC

1 paper

NM_000264.5

p.F434fs

c.1300_1301fs

1 paper

NM_000264.5

p.S433_F434insFs

c.1299_1300insA

2 papers

NM_000264.5

p.F434_S435del1

c.1301_1303delAGA

1 paper

NM_000264.5

p.D429_S435delFs

c.1287_1303del17

17 papers

NM_000264.5

p.D436N

c.1306G>A

1 paper

NM_000264.5

p.D436fs

c.1306_1307fs

1 paper

NM_000264.5

p.L431L

c.1293G>C

1 paper

NM_001083603.3

p.D435V

c.1304A>T

1 paper

NM_000264.5

p.L431insFs

c.1291dupC

4 papers

NM_000264.5

p.L431delFs

c.1291delG

1 paper

NM_000264.5

p.D436D

c.1308C>T