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

7 papers

NM_016169.4

p.S28*

c.83C>A

Surrounding Variants

1 paper

NM_016169.4

p.L29F

c.85C>T

1 paper

NM_016169.4

p.L29insFs

c.87dupC

2 papers

NM_016169.4

p.L29L

c.87C>T

1 paper

NM_016169.4

p.F30_P31insCC

c.88_92ins6

1 paper

NM_016169.4

p.P31insFs

c.93dupC

1 paper

NM_016169.4

p.P31_P32del2

c.91_95del6

1 paper

NM_016169.4

p.P31S

c.91C>T

1 paper

NM_016169.4

p.P31L

c.92C>T

2 papers

NM_016169.4

p.A25fs

c.73_74fs

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