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

13 papers

NM_016169.4

p.T13P

c.37A>C

Surrounding Variants

3 papers

NM_016169.4

p.T13fs

c.37_38fs

1 paper

NM_016169.4

p.P12_T13delFs

c.36_37delCA

3 papers

NM_016169.4

p.A14P

c.40G>C

1 paper

NM_016169.4

p.A14A

c.42G>C

8 papers

NM_016169.4

p.G11R

c.31G>C

1 paper

NM_016169.4

p.G11fs

c.31_32fs

1 paper

NM_016169.4

p.P15L

c.44C>T

1 paper

NM_016169.4

p.G11delFs

c.31_32delGG

1 paper

NM_016169.4

p.P10L

c.29C>T

1 paper

NM_016169.4

p.P10fs

c.28_29fs

2 papers

NM_016169.4

p.P16P

c.48G>C

1 paper

NM_016169.4

p.A17T

c.49G>A