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.E1236K

c.3706G>A

Surrounding Variants

2 papers

NM_000264.5

p.R1239W

c.3715C>T

3 papers

NM_000264.5

p.R1239Q

c.3716G>A

1 paper

NM_000264.5

p.S1232L

c.3695C>T

1 paper

NM_000264.5

p.G1217_V1231del15

c.3649_3692del45

1 paper

NM_000264.5

p.H1240R

c.3719A>G

6 papers

NM_000264.5

p.V1231A

c.3692T>C

1 paper

NM_000264.5

p.V1231M

c.3691G>A

1 paper

NM_000264.5

p.E1242*

c.3724G>T

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

5 papers

NM_001083606.3

p.T1078M

c.3233C>T

NM_000264.5

p.T1229M

c.3686C>T