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.G1400_Y1401insFs

c.4200_4201insG

Surrounding Variants

1 paper

NM_000264.5

p.G1400_Y1401insFs

c.4200_4201ins8

1 paper

NM_000264.5

p.G1400D

c.4199G>A

1 paper

NM_000264.5

p.Y1401Y

c.4203C>T

1 paper

NM_000264.5

p.P1399P

c.4197A>G

1 paper

NM_000264.5

p.P1402S

c.4204C>T

1 paper

NM_000264.5

p.P1399S

c.4195C>T

1 paper

NM_000264.5

p.C1398*

c.4194C>A

1 paper

NM_000264.5

p.E1403*

c.4207G>T

1 paper

NM_000264.5

p.L1397_C1398insFs

c.4191_4192dupCT

1 paper

NM_000264.5

p.C1398Y

c.4193G>A

1 paper

NM_000264.5

p.E1403G

c.4208A>G

1 paper

NM_000264.5

p.E1403D

c.4209G>T