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

2 papers

NM_000264.5

p.R638C

c.1912C>T

Surrounding Variants

1 paper

NM_000264.5

p.R638P

c.1913G>C

3 papers

NM_000264.5

p.R638H

c.1913G>A

2 papers

NM_000264.5

p.T637I

c.1910C>T

1 paper

NM_000264.5

p.R638R

c.1914C>G

2 papers

NM_000264.5

p.Y639F

c.1916A>T

1 paper

NM_000264.5

p.N636D

c.1906A>G

1 paper

NM_000264.5

p.S640R

c.1918A>C

1 paper

NM_000264.5

p.D635insFs

c.1904_1905insAG

1 paper

NM_000264.5

p.S640R

c.1920C>G

1 paper

NM_000264.5

p.S640R

c.1920C>A

1 paper

NM_000264.5

p.D635Y

c.1903G>T

3 papers

NM_000264.5

p.D635N

c.1903G>A