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.V1263I

c.3787G>A

Surrounding Variants

1 paper

NM_000264.5

p.P1262P

c.3786C>G

1 paper

NM_000264.5

p.P1262L

c.3785C>T

1 paper

NM_000264.5

p.V1263V

c.3789C>G

1 paper

NM_000264.5

p.V1263delFs

c.3789delG

1 paper

NM_000264.5

p.P1262S

c.3784C>T

1 paper

NM_001083602.3

p.N1195Y

c.3583A>T

1 paper

NM_000264.5

p.E1260*

c.3778G>T

1 paper

NM_000264.5

p.H1266L

c.3797A>T

1 paper

NM_000264.5

p.T1259I

c.3776C>T

1 paper

NM_000264.5

p.S1267C

c.3800C>G

1 paper

NM_000264.5

p.T1268insFs

c.3802_3803ins4

1 paper

NM_000264.5

p.E1257D

c.3771A>T