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.F422_T423delFs

c.1266_1269del4

Surrounding Variants

1 paper

NM_000264.5

p.T423delFs

c.1267delT

4 papers

NM_000264.5

p.T423A

c.1267A>G

4 papers

NM_000264.5

p.T425M

c.1274C>T

1 paper

NM_000264.5

p.F422fs

c.1264_1265fs

1 paper

NM_000264.5

p.T425T

c.1275G>A

1 paper

NM_000264.5

p.F422V

c.1264T>G

1 paper

NM_000264.5

p.S421_T425del5

c.1261_1274del15

1 paper

NM_000264.5

p.S421fs

c.1261_1262fs

2 papers

NM_000264.5

p.S421F

c.1262C>T

3 papers

NM_000264.5

p.S421insFs

c.1261_1262insT

2 papers

NM_000264.5

p.L427fs

c.1279_1280fs

1 paper

NM_000264.5

p.S421fs

c.1261_1262fs