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.Y1316*

c.3948C>G

Surrounding Variants

6 papers

NM_000264.5

p.Y1316fs

c.3946_3947fs

1 paper

NM_000264.5

p.Y1316*

c.3948C>A

20 papers

NM_000264.5

p.Y1316C

c.3947A>G

NM_001083607.3

p.Y1165C

c.3494A>G

NM_001083602.3

p.Y1250C

c.3749A>G

1 paper

NM_000264.5

p.Y1316S

c.3947A>C

2 papers

NM_000264.5

p.P1314delFs

c.3942delG

3 papers

NM_000264.5

p.Y1316fs

c.3946_3947fs

1 paper

NM_000264.5

p.P1315P

c.3945C>T

79 papers

NM_000264.5

p.P1315L

c.3944C>T

4 papers

NM_000264.5

p.P1315R

c.3944C>G

1 paper

NM_000264.5

p.P1315insFs

c.3944_3945insT

2 papers

NM_000264.5

p.P1315H

c.3944C>A

6 papers

NM_000264.5

p.P1318L

c.3953C>T