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.E126A

c.377A>C

Surrounding Variants

1 paper

NM_000264.5

p.E126D

c.378G>C

2 papers

NM_000264.5

p.E127*

c.379G>T

1 paper

NM_000264.5

p.V125fs

c.373_374fs

1 paper

NM_000264.5

p.E127K

c.379G>A

1 paper

NM_000264.5

p.V125A

c.374T>C

1 paper

NM_000264.5

p.V125E

c.374T>A

1 paper

NM_000264.5

p.L128_W129insAGA

c.382_386ins9

1 paper

NM_000264.5

p.L128P

c.383T>C

1 paper

NM_000264.5

p.W129R

c.385T>C

1 paper

NM_000264.5

p.W129R

c.385T>A

2 papers

NM_000264.5

p.W129fs

c.385_386fs

1 paper

NM_000264.5

p.W129L

c.386G>T