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.A138T

c.412G>A

Surrounding Variants

1 paper

NM_016169.4

p.A138P

c.412G>C

2 papers

NM_016169.4

p.A138Fs

c.412delinsCCFs

2 papers

NM_016169.4

p.A138fs

c.412_413fs

1 paper

NM_016169.4

p.P137R

c.410C>G

1 paper

NM_016169.4

p.E139G

c.416A>G

1 paper

NM_016169.4

p.E139V

c.416A>T

2 papers

NM_016169.4

p.W136*

c.408G>A

2 papers

NM_016169.4

p.W136*

c.407G>A

1 paper

NM_016169.4

p.L140*

c.419T>A

1 paper

NM_016169.4

p.L140*

c.419T>G

1 paper

NM_016169.4

p.M141fs

c.421_422fs

1 paper

NM_016169.4

p.T135fs

c.403_404fs