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.Y38fs

c.112_113fs

Surrounding Variants

1 paper

NM_016169.4

p.I37delFs

c.111delC

1 paper

NM_016169.4

p.I37V

c.109A>G

1 paper

NM_016169.4

p.I37fs

c.109_110fs

1 paper

NM_016169.4

p.G39G

c.117A>T

1 paper

NM_016169.4

p.A36_I37delFs

c.108_111del4

1 paper

NM_016169.4

p.E40G

c.119A>G

1 paper

NM_016169.4

p.A36_I37del2

c.106_110del6

2 papers

NM_016169.4

p.C41Y

c.122G>A

1 paper

NM_016169.4

p.L44F

c.130C>T

1 paper

NM_016169.4

p.P31L

c.92C>T

1 paper

NM_016169.4

p.P31S

c.91C>T

1 paper

NM_016169.4

p.P31insFs

c.93dupC