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.E1242*

c.3724G>T

Surrounding Variants

1 paper

NM_000264.5

p.Y1241insFs

c.3723dupC

4 papers

NM_000264.5

p.E1242K

c.3724G>A

1 paper

NM_000264.5

p.Y1241delFs

c.3723delG

1 paper

NM_000264.5

p.H1240R

c.3719A>G

1 paper

NM_000264.5

p.Q1244delFs

c.3730delG

3 papers

NM_000264.5

p.R1239Q

c.3716G>A

2 papers

NM_000264.5

p.R1239W

c.3715C>T

1 paper

NM_000264.5

p.H1240_Q1245del6

c.3718_3734del18

3 papers

NM_000264.5

p.A1247T

c.3739G>A

1 paper

NM_000264.5

p.A1247A

c.3741G>A

1 paper

NM_000264.5

p.E1236K

c.3706G>A

1 paper

NM_000264.5

p.G1249_P1250insA

c.3745_3749ins3