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

2 papers

NM_000264.5

p.I531_E534delFs

c.1591_1601del11

Surrounding Variants

1 paper

NM_000264.5

p.E534_D535Splc

c.1602+1G>A

1 paper

NM_000264.5

p.E534_D535Splc

c.1602+2T>G

1 paper

NM_000264.5

p.E534_D535Splc

c.1602+2T>C

1 paper

NM_000264.5

p.E534*

c.1600G>T

1 paper

NM_000264.5

p.E534Q

c.1600G>C

1 paper

NM_000264.5

p.P532delFs

c.1595_1596delAG

1 paper

NM_000264.5

p.I531T

c.1592T>C

1 paper

NM_000264.5

p.I531fs

c.1591_1592fs

4 papers

NM_000264.5

p.K529*

c.1585A>T

1 paper

NM_000264.5

p.Q527_N528delFs

c.1581_1582delTC

2 papers

NM_000264.5

p.G526_Q527del2

c.1576_1580del6

1 paper

NM_000264.5

p.Q527insFs

c.1579_1580insC