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

13 papers

NM_000264.5

p.Q501_V502Splc

c.1504-8T>C

Surrounding Variants

3 papers

NM_000264.5

p.Q501_V502Splc

c.1504-2A>T

2 papers

NM_000264.5

p.Q501_V502Splc

c.1504-1G>T

1 paper

NM_000264.5

p.Q501_V502Splc

c.1504-1G>C

4 papers

NM_000264.5

p.Q501_V502Splc

c.1504-1G>A

1 paper

NM_000264.5

p.V502fs

c.1504_1505fs

1 paper

NM_001083602.3

p.V436I

c.1306G>A

1 paper

NM_000264.5

p.L503fs

c.1507_1508fs

1 paper

NM_000264.5

p.L503W

c.1508T>G

1 paper

NM_000264.5

p.L503S

c.1508T>C

2 papers

NM_000264.5

p.L503insFs

c.1508dupT

1 paper

NM_000264.5

p.L503fs

c.1507_1508fs

1 paper

NM_000264.5

p.P504S

c.1510C>T