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.H652delFs

c.1954delG

Surrounding Variants

1 paper

NM_001083604.3

p.H501L

c.1502A>T

1 paper

NM_000264.5

p.E653Q

c.1957G>C

2 papers

NM_000264.5

p.T654M

c.1961C>T

1 paper

NM_001083604.3

p.T503K

c.1508C>A

1 paper

NM_000264.5

p.Q655*

c.1963C>T

1 paper

NM_000264.5

p.S649R

c.1947C>A

2 papers

NM_000264.5

p.S649G

c.1945A>G

1 paper

NM_000264.5

p.H648D

c.1942C>G

3 papers

NM_000264.5

p.S647R

c.1941C>G

3 papers

NM_000264.5

p.S647R

c.1941C>A

3 papers

NM_000264.5

p.S647C

c.1939A>T

3 papers

NM_000264.5

p.S647R

c.1939A>C