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

3 papers

NM_000264.5

p.P1302L

c.3905C>T

Surrounding Variants

1 paper

NM_000264.5

p.P1302R

c.3905C>G

1 paper

NM_000264.5

p.P1302H

c.3905C>A

13 papers

NM_000264.5

p.R1303C

c.3907C>T

1 paper

NM_000264.5

p.R1303insFs

c.3908_3909ins5

3 papers

NM_000264.5

p.R1303H

c.3908G>A

1 paper

NM_000264.5

p.Q1301*

c.3901C>T

1 paper

NM_000264.5

p.Q1301K

c.3901C>A

1 paper

NM_000264.5

p.Q1300H

c.3900G>T

1 paper

NM_000264.5

p.Q1300H

c.3900G>C

1 paper

NM_000264.5

p.R1304fs

c.3910_3911fs

2 papers

NM_000264.5

p.R1303_R1304insFs

c.3909_3910insC

1 paper

NM_000264.5

p.R1304insFs

c.3910_3911insCC