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

18 papers

NM_016169.4

p.R123C

c.367C>T

Surrounding Variants

2 papers

NM_016169.4

p.R123H

c.368G>A

1 paper

NM_016169.4

p.L124P

c.371T>C

1 paper

NM_016169.4

p.T121S

c.362C>G

1 paper

NM_016169.4

p.K125Q

c.373A>C

1 paper

NM_016169.4

p.T121S

c.361A>T

1 paper

NM_016169.4

p.E119delFs

c.355delG

1 paper

NM_016169.4

p.G129R

c.385G>A

1 paper

NM_016169.4

p.G129R

c.385G>C

1 paper

NM_016169.4

p.E130K

c.388G>A

1 paper

NM_016169.4

p.A132V

c.395C>T

1 paper

NM_016169.4

p.P113L

c.338C>T

1 paper

NM_016169.4

p.P134insFs

c.401dupC