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.G1217R

c.3649G>A

Surrounding Variants

1 paper

NM_000264.5

p.G1217R

c.3649G>C

1 paper

NM_000264.5

p.S1216S

c.3648C>T

1 paper

NM_000264.5

p.D1219Y

c.3655G>T

1 paper

NM_000264.5

p.T1214T

c.3642G>A

5 papers

NM_000264.5

p.T1214M

c.3641C>T

1 paper

NM_000264.5

p.S1220_S1221insT

c.3658_3662ins3

1 paper

NM_000264.5

p.S1220F

c.3659C>T

1 paper

NM_000264.5

p.S1220delFs

c.3659delG

3 papers

NM_000264.5

p.S1221F

c.3662C>T

2 papers

NM_000264.5

p.G1212G

c.3636C>T

7 papers

NM_000264.5

p.G1212S

c.3634G>A

1 paper

NM_000264.5

p.D1222N

c.3664G>A