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.Q1366*

c.4096C>T

Surrounding Variants

1 paper

NM_000264.5

p.C1365_Q1366ins9

c.4093_4097ins27

1 paper

NM_000264.5

p.C1365S

c.4093T>A

1 paper

NM_000264.5

p.Y1364_Q1366delFs

c.4092_4098del7

3 papers

NM_000264.5

p.G1363S

c.4087G>A

1 paper

NM_000264.5

p.T1369insFs

c.4106_4107insT

2 papers

NM_000264.5

p.P1362S

c.4084C>T

8 papers

NM_000264.5

p.S1360S

c.4080C>T

1 paper

NM_000264.5

p.S1360F

c.4079C>T

2 papers

NM_000264.5

p.T1372M

c.4115C>T

1 paper

NM_000264.5

p.G1358D

c.4073G>A

1 paper

NM_000264.5

p.S1374Y

c.4121C>A

1 paper

NM_000264.5

p.A1375_S1376ins7

c.4123_4127ins21