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

4 papers

NM_000264.5

p.P504Q

c.1511C>A

NM_001083602.3

p.P438Q

c.1313C>A

NM_001083603.3

p.P503Q

c.1508C>A

NM_001083604.3

p.P353Q

c.1058C>A

Surrounding Variants

6 papers

NM_000264.5

p.P504L

c.1511C>T

1 paper

NM_000264.5

p.P504S

c.1510C>T

1 paper

NM_000264.5

p.L503_P504insFs

c.1509_1510insG

1 paper

NM_000264.5

p.F505L

c.1513T>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.L503W

c.1508T>G

1 paper

NM_000264.5

p.L503S

c.1508T>C

1 paper

NM_000264.5

p.F505L

c.1515T>G

1 paper

NM_000264.5

p.F505L

c.1515T>A

1 paper

NM_000264.5

p.L503fs

c.1507_1508fs

1 paper

NM_000264.5

p.V502_F505delFs

c.1506_1515del10