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.W730R

c.2188T>C

Surrounding Variants

1 paper

NM_000264.5

p.W730R

c.2188T>A

1 paper

NM_000264.5

p.W730L

c.2189G>T

2 papers

NM_000264.5

p.W730*

c.2189G>A

2 papers

NM_000264.5

p.W730*

c.2190G>A

1 paper

NM_000264.5

p.W730delins

c.2189_2190delinsAA

5 papers

NM_000264.5

p.K729M

c.2186A>T

1 paper

NM_000264.5

p.K729insFs

c.2185_2186ins4

9 papers

NM_000264.5

p.T728M

c.2183C>T

2 papers

NM_000264.5

p.C727fs

c.2179_2180fs

9 papers

NM_000264.5

p.C727delFs

c.2179delA

3 papers

NM_000264.5

p.P726insFs

c.2178dupC

1 paper

NM_000264.5

p.C727R

c.2179T>C