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.P325S

c.973C>T

Surrounding Variants

1 paper

NM_016169.4

p.V323G

c.968T>G

1 paper

NM_016169.4

p.I327V

c.979A>G

1 paper

NM_016169.4

p.I327F

c.979A>T

1 paper

NM_016169.4

p.N328delFs

c.983delA

1 paper

NM_016169.4

p.K321R

c.962A>G

1 paper

NM_016169.4

p.N328K

c.984C>A

3 papers

NM_016169.4

p.N319fs

c.955_956fs

3 papers

NM_016169.4

p.R331W

c.991C>T

1 paper

NM_016169.4

p.I318N

c.953T>A

2 papers

NM_016169.4

p.I318delFs

c.954delC

1 paper

NM_016169.4

p.Q332E

c.994C>G

1 paper

NM_016169.4

p.L335Fs

c.1003delinsGAFs