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.P681_E684del4

c.2041_2051del12

Surrounding Variants

1 paper

NM_000264.5

p.E684A

c.2051A>C

3 papers

NM_000264.5

p.E684*

c.2050G>T

2 papers

NM_000264.5

p.E684K

c.2050G>A

1 paper

NM_000264.5

p.S683S

c.2049C>T

1 paper

NM_000264.5

p.S683Y

c.2048C>A

2 papers

NM_000264.5

p.S683insFs

c.2047_2048insCT

1 paper

NM_000264.5

p.V687L

c.2059G>C

1 paper

NM_000264.5

p.V687M

c.2059G>A

4 papers

NM_000264.5

p.R682L

c.2045G>T

1 paper

NM_000264.5

p.V687fs

c.2059_2060fs

8 papers

NM_000264.5

p.Q688*

c.2062C>T

1 paper

NM_000264.5

p.R682C

c.2044C>T