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.V622L

c.1864G>C

Surrounding Variants

1 paper

NM_000264.5

p.V622L

c.1864G>T

1 paper

NM_000264.5

p.V622A

c.1865T>C

2 papers

NM_000264.5

p.R621_V622delFs

c.1863_1864delCT

1 paper

NM_000264.5

p.R621fs

c.1861_1862fs

1 paper

NM_000264.5

p.R621T

c.1862G>C

1 paper

NM_000264.5

p.R621K

c.1862G>A

1 paper

NM_000264.5

p.R621*

c.1861A>T

1 paper

NM_000264.5

p.V625_E626insAA

c.1873_1877ins6

1 paper

NM_000264.5

p.V619I

c.1855G>A

2 papers

NM_000264.5

p.C618*

c.1854C>A

1 paper

NM_000264.5

p.C618F

c.1853G>T

1 paper

NM_000264.5

p.C618S

c.1853G>C