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.A412delFs

c.1234delC

Surrounding Variants

3 papers

NM_000264.5

p.A412T

c.1234G>A

1 paper

NM_000264.5

p.A412fs

c.1234_1235fs

3 papers

NM_000264.5

p.Q413*

c.1237C>T

1 paper

NM_000264.5

p.V411V

c.1233C>T

1 paper

NM_000264.5

p.V411delFs

c.1231_1232delAC

1 paper

NM_000264.5

p.V406_V411del0

c.1217_1231del15

1 paper

NM_000264.5

p.V411I

c.1231G>A

1 paper

NM_000264.5

p.N414D

c.1240A>G

1 paper

NM_000264.5

p.S410fs

c.1228_1229fs

1 paper

NM_000264.5

p.N414K

c.1242C>G

1 paper

NM_000264.5

p.N414K

c.1242C>A

1 paper

NM_000264.5

p.Q409fs

c.1225_1226fs