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.L447_L448ins0

c.1339_1344dup6

Surrounding Variants

2 papers

NM_000264.5

p.M449K

c.1346T>A

4 papers

NM_000264.5

p.L448_M449delFs

c.1342_1345del4

1 paper

NM_000264.5

p.L448fs

c.1342_1343fs

1 paper

NM_000264.5

p.L447_L448delFs

c.1340_1343del4

1 paper

NM_000264.5

p.L448H

c.1343T>A

1 paper

NM_000264.5

p.M449I

c.1347G>T

1 paper

NM_000264.5

p.M449I

c.1347G>C

1 paper

NM_000264.5

p.M449I

c.1347G>A

2 papers

NM_000264.5

p.L448_M449del1

c.1343_1345delTGA

1 paper

NM_000264.5

p.M449_L450Splc

c.1347+1G>T

1 paper

NM_000264.5

p.M449_L450Splc

c.1347+1G>C

3 papers

NM_000264.5

p.M449_L450Splc

c.1347+1G>A