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.S646R

c.1936A>C

Surrounding Variants

1 paper

NM_000264.5

p.Y645*

c.1935C>G

1 paper

NM_000264.5

p.Y645insFs

c.1934dupA

1 paper

NM_000264.5

p.Y645*

c.1935C>A

1 paper

NM_000264.5

p.S646R

c.1938C>G

1 paper

NM_000264.5

p.S646R

c.1938C>A

3 papers

NM_000264.5

p.S647C

c.1939A>T

3 papers

NM_000264.5

p.S647R

c.1939A>C

1 paper

NM_000264.5

p.S647_H648ins9

c.1939_1943ins27

1 paper

NM_000264.5

p.P643_S646del4

c.1927_1937del12

1 paper

NM_000264.5

p.P644L

c.1931C>T

3 papers

NM_000264.5

p.S647R

c.1941C>G

3 papers

NM_000264.5

p.S647R

c.1941C>A