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.G1340_G1343del4

c.4018_4028del12

Surrounding Variants

2 papers

NM_000264.5

p.R1345C

c.4033C>T

2 papers

NM_000264.5

p.R1345G

c.4033C>G

1 paper

NM_000264.5

p.G1343V

c.4028G>T

2 papers

NM_000264.5

p.G1343A

c.4028G>C

5 papers

NM_000264.5

p.R1345H

c.4034G>A

1 paper

NM_000264.5

p.R1338_R1345del0

c.4014_4034del21

1 paper

NM_000264.5

p.A1337_R1345delFs

c.4010_4034del25

6 papers

NM_000264.5

p.G1343R

c.4027G>C

6 papers

NM_000264.5

p.G1343R

c.4027G>A

2 papers

NM_000264.5

p.G1343_R1345del3

c.4027_4034del9

2 papers

NM_000264.5

p.R1342_R1345del4

c.4024_4034del12

3 papers

NM_000264.5

p.R1342P

c.4025G>C