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.W1027*

c.3080G>A

Surrounding Variants

1 paper

NM_000264.5

p.W1027C

c.3081G>T

1 paper

NM_000264.5

p.W1027fs

c.3079_3080fs

1 paper

NM_000264.5

p.W1027C

c.3081G>C

2 papers

NM_000264.5

p.W1027*

c.3081G>A

1 paper

NM_000264.5

p.W1027delFs

c.3079_3080delCA

1 paper

NM_000264.5

p.W1027insFs

c.3081dupG

1 paper

NM_000264.5

p.Y1021_H1026delFs

c.3061_3077del17

1 paper

NM_000264.5

p.R1025R

c.3075C>T

1 paper

NM_000264.5

p.R1025insFs

c.3074dupG

2 papers

NM_000264.5

p.R1025H

c.3074G>A

1 paper

NM_000264.5

p.L1029fs

c.3085_3086fs

1 paper

NM_000264.5

p.L1029insFs

c.3085_3086ins4