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.G1396delFs

c.4188delT

Surrounding Variants

1 paper

NM_000264.5

p.L1397fs

c.4189_4190fs

1 paper

NM_000264.5

p.R1394_G1396delFs

c.4181_4188del8

1 paper

NM_000264.5

p.L1397delFs

c.4189delG

1 paper

NM_000264.5

p.G1396delFs

c.4187delC

1 paper

NM_000264.5

p.G1396E

c.4187G>A

1 paper

NM_000264.5

p.G1396fs

c.4186_4187fs

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.C1398*

c.4194C>A

1 paper

NM_000264.5

p.G1395R

c.4183G>C

1 paper

NM_000264.5

p.G1395R

c.4183G>A

1 paper

NM_000264.5

p.P1399S

c.4195C>T