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

10 papers

NM_000264.5

p.P1202delFs

c.3606delG

Surrounding Variants

9 papers

NM_000264.5

p.S1203fs

c.3607_3608fs

2 papers

NM_000264.5

p.S1203R

c.3607A>C

1 paper

NM_000264.5

p.P1202insFs

c.3606dupC

1 paper

NM_000264.5

p.S1203N

c.3608G>A

4 papers

NM_000264.5

p.P1202fs

c.3604_3605fs

1 paper

NM_000264.5

p.S1203S

c.3609C>T

2 papers

NM_000264.5

p.S1203R

c.3609C>G

23 papers

NM_000264.5

p.S1203fs

c.3607_3608fs

2 papers

NM_000264.5

p.S1203R

c.3609C>A

2 papers

NM_000264.5

p.V1204M

c.3610G>A

3 papers

NM_000264.5

p.V1204A

c.3611T>C

1 paper

NM_000264.5

p.V1205A

c.3614T>C