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.P1341S

c.4021C>T

Surrounding Variants

1 paper

NM_000264.5

p.P1341A

c.4021C>G

1 paper

NM_000264.5

p.P1341R

c.4022C>G

1 paper

NM_000264.5

p.P1341fs

c.4021_4022fs

1 paper

NM_000264.5

p.P1341delFs

c.4022delG

1 paper

NM_000264.5

p.G1340S

c.4018G>A

2 papers

NM_000264.5

p.R1342C

c.4024C>T

1 paper

NM_000264.5

p.R1342G

c.4024C>G

3 papers

NM_000264.5

p.R1342P

c.4025G>C

3 papers

NM_000264.5

p.W1339*

c.4017G>A

2 papers

NM_000264.5

p.R1342H

c.4025G>A

3 papers

NM_000264.5

p.W1339*

c.4016G>A

6 papers

NM_000264.5

p.G1343R

c.4027G>C