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

2 papers

NM_016169.4

p.Y147*

c.441C>G

Surrounding Variants

2 papers

NM_016169.4

p.Y147*

c.441C>A

1 paper

NM_016169.4

p.Y147Y

c.441C>T

1 paper

NM_016169.4

p.V148M

c.442G>A

1 paper

NM_016169.4

p.R146Q

c.437G>A

9 papers

NM_016169.4

p.R146*

c.436C>T

1 paper

NM_016169.4

p.Q142L

c.425A>T

1 paper

NM_016169.4

p.G143delFs

c.428delG

3 papers

NM_016169.4

p.M141R

c.422T>G

1 paper

NM_016169.4

p.M141insFs

c.422_423insA

1 paper

NM_016169.4

p.M141fs

c.421_422fs

1 paper

NM_016169.4

p.L140*

c.419T>A

1 paper

NM_016169.4

p.L140*

c.419T>G