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

3 papers

NM_000264.5

p.S421insFs

c.1261_1262insT

Surrounding Variants

2 papers

NM_000264.5

p.S421F

c.1262C>T

1 paper

NM_000264.5

p.S421fs

c.1261_1262fs

1 paper

NM_000264.5

p.S421fs

c.1261_1262fs

1 paper

NM_000264.5

p.F422V

c.1264T>G

2 papers

NM_000264.5

p.L420P

c.1259T>C

1 paper

NM_000264.5

p.F422fs

c.1264_1265fs

1 paper

NM_000264.5

p.L420I

c.1258C>A

4 papers

NM_000264.5

p.T423A

c.1267A>G

1 paper

NM_000264.5

p.T423delFs

c.1267delT

1 paper

NM_000264.5

p.V419M

c.1255G>A

1 paper

NM_000264.5

p.K418N

c.1254G>T

1 paper

NM_000264.5

p.K418fs

c.1252_1253fs