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.A25fs

c.73_74fs

Surrounding Variants

7 papers

NM_016169.4

p.A25fs

c.73_74fs

3 papers

NM_016169.4

p.P24fs

c.70_71fs

1 paper

NM_016169.4

p.P24S

c.70C>T

6 papers

NM_016169.4

p.P24fs

c.70_71fs

1 paper

NM_016169.4

p.P23ins1

c.68_69insAAG

2 papers

NM_016169.4

p.A22delins

c.66delinsA

1 paper

NM_016169.4

p.A22Fs

c.65_66delinsTFs

1 paper

NM_016169.4

p.P23_L29del7

c.67_86del21

15 papers

NM_016169.4

p.P24insFs

c.71dupC

3 papers

NM_016169.4

p.A22fs

c.64_65fs

12 papers

NM_016169.4

p.P24delFs

c.71delC

7 papers

NM_016169.4

p.S28*

c.83C>A