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.L121F

c.361C>T

Surrounding Variants

4 papers

NM_000264.5

p.L121insFs

c.361_362ins4

1 paper

NM_000264.5

p.L121fs

c.361_362fs

2 papers

NM_001083603.3

p.E121*

c.361G>T

NM_000264.5

p.E122*

c.364G>T

NM_001083602.3

p.E56*

c.166G>T

1 paper

NM_000264.5

p.E122D

c.366G>C

1 paper

NM_000264.5

p.A119V

c.356C>T

1 paper

NM_000264.5

p.A119E

c.356C>A

1 paper

NM_000264.5

p.A119P

c.355G>C

1 paper

NM_000264.5

p.T123P

c.367A>C

1 paper

NM_000264.5

p.T123I

c.368C>T

1 paper

NM_000264.5

p.A118V

c.353C>T

1 paper

NM_000264.5

p.K117fs

c.349_350fs

1 paper

NM_000264.5

p.K117*

c.349A>T