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

5 papers

NM_000264.5

p.Y971Y

c.2913T>C

Surrounding Variants

2 papers

NM_000264.5

p.A972P

c.2914G>C

1 paper

NM_000264.5

p.A972T

c.2914G>A

1 paper

NM_000264.5

p.A972D

c.2915C>A

4 papers

NM_000264.5

p.Q973*

c.2917C>T

2 papers

NM_000264.5

p.Q973K

c.2917C>A

4 papers

NM_000264.5

p.E970*

c.2908G>T

1 paper

NM_000264.5

p.E970K

c.2908G>A

1 paper

NM_000264.5

p.Q973R

c.2918A>G

1 paper

NM_000264.5

p.Q973P

c.2918A>C

1 paper

NM_000264.5

p.F974insFs

c.2921_2922ins4

1 paper

NM_000264.5

p.F974C

c.2921T>G

1 paper

NM_000264.5

p.F974F

c.2922C>T