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.P113L

c.338C>T

Surrounding Variants

1 paper

NM_016169.4

p.G112E

c.335G>A

1 paper

NM_016169.4

p.G112*

c.334G>T

1 paper

NM_016169.4

p.D111E

c.333T>A

1 paper

NM_016169.4

p.D111E

c.333T>G

1 paper

NM_016169.4

p.G109fs

c.325_326fs

1 paper

NM_016169.4

p.G109delFs

c.326delG

1 paper

NM_016169.4

p.E119delFs

c.355delG

1 paper

NM_016169.4

p.T108_D111del4

c.322_332del12

1 paper

NM_016169.4

p.T121S

c.361A>T

1 paper

NM_016169.4

p.T121S

c.362C>G

18 papers

NM_016169.4

p.R123C

c.367C>T

2 papers

NM_016169.4

p.R123H

c.368G>A