Varaico: Literature-Extracted Genetic Variants

SUFU

445 papers

RefSeq Summary

The Hedgehog signaling pathway plays an important role in early human development. The pathway is a signaling cascade that plays a role in pattern formation and cellular proliferation during developme...

Pfam Domains

SUFUaa 64–241UCSCSuppressor of fused protein (SUFU)

SUFU_Caa 253–473UCSCSuppressor of Fused Gli/Ci N terminal binding domain

Gene Aliases

HGNC Name

SUFU negative regulator of hedgehog signaling

HGNC Alias Symbols

SUFUH; SUFUXL; PRO1280

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_016169.4

p.S290G

c.868A>G

Surrounding Variants

1 paper

NM_016169.4

p.I291V

c.871A>G

1 paper

NM_016169.4

p.S288N

c.863G>A

1 paper

NM_016169.4

p.S288insFs

c.862_863ins4

1 paper

NM_016169.4

p.S288ins3

c.862_863ins9

1 paper

NM_016169.4

p.C292F

c.875G>T

3 papers

NM_016169.4

p.G294S

c.880G>A

1 paper

NM_016169.4

p.E286K

c.856G>A

1 paper

NM_016169.4

p.E286fs

c.856_857fs

1 paper

NM_016169.4

p.E286*

c.856G>T

2 papers

NM_016169.4

p.G294D

c.881G>A

1 paper

NM_016169.4

p.D285G

c.854A>G

1 paper

NM_016169.4

p.E286_S288del3

c.856_863del9