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.S1374Y

c.4121C>A

Surrounding Variants

1 paper

NM_000264.5

p.A1375_S1376ins7

c.4123_4127ins21

1 paper

NM_000264.5

p.S1376A

c.4126T>G

2 papers

NM_000264.5

p.T1372M

c.4115C>T

1 paper

NM_000264.5

p.S1376F

c.4127C>T

1 paper

NM_000264.5

p.S1376S

c.4128C>T

2 papers

NM_000264.5

p.V1377M

c.4129G>A

1 paper

NM_000264.5

p.V1379I

c.4135G>A

1 paper

NM_000264.5

p.T1369insFs

c.4106_4107insT

2 papers

NM_000264.5

p.A1380T

c.4138G>A

2 papers

NM_000264.5

p.A1380V

c.4139C>T

1 paper

NM_000264.5

p.A1380A

c.4140C>T

1 paper

NM_000264.5

p.V1381_H1382ins5

c.4141_4145ins15