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.A70V

c.209C>T

Surrounding Variants

1 paper

NM_000264.5

p.A70D

c.209C>A

3 papers

NM_000264.5

p.A70T

c.208G>A

1 paper

NM_000264.5

p.K69K

c.207G>A

1 paper

NM_000264.5

p.T71A

c.211A>G

1 paper

NM_000264.5

p.T71_G72insG

c.211_215ins3

2 papers

NM_000264.5

p.T71I

c.212C>T

1 paper

NM_000264.5

p.T71insFs

c.211dupA

1 paper

NM_000264.5

p.T71N

c.212C>A

1 paper

NM_000264.5

p.T71fs

c.211_212fs

1 paper

NM_000264.5

p.T71T

c.213T>C

2 papers

NM_000264.5

p.K69*

c.205A>T

1 paper

NM_001083602.3

p.G2delFs

c.4delC