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.G294D

c.881G>A

Surrounding Variants

1 paper

NM_016169.4

p.G294G

c.882C>T

3 papers

NM_016169.4

p.G294S

c.880G>A

1 paper

NM_016169.4

p.Q296*

c.886C>T

1 paper

NM_016169.4

p.Q296L

c.887A>T

1 paper

NM_016169.4

p.C292F

c.875G>T

1 paper

NM_016169.4

p.P297S

c.889C>T

1 paper

NM_016169.4

p.I291V

c.871A>G

2 papers

NM_016169.4

p.R298Q

c.893G>A

1 paper

NM_016169.4

p.S290G

c.868A>G

1 paper

NM_016169.4

p.R298R

c.894G>T

1 paper

NM_016169.4

p.R299G

c.895C>G

8 papers

NM_016169.4

p.R299*

c.895C>T