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.R314K

c.941G>A

Surrounding Variants

1 paper

NM_016169.4

p.I318N

c.953T>A

2 papers

NM_016169.4

p.I318delFs

c.954delC

3 papers

NM_016169.4

p.N319fs

c.955_956fs

1 paper

NM_016169.4

p.R309fs

c.925_926fs

1 paper

NM_016169.4

p.R309_E310del2

c.925_929del6

1 paper

NM_016169.4

p.I308T

c.923T>C

2 papers

NM_016169.4

p.R309delFs

c.925delC

1 paper

NM_016169.4

p.K321R

c.962A>G

1 paper

NM_016169.4

p.E306*

c.916G>T

1 paper

NM_016169.4

p.E306fs

c.916_917fs

1 paper

NM_016169.4

p.E306delFs

c.917_918delAG

1 paper

NM_016169.4

p.V323G

c.968T>G