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.A17S

c.49G>T

Surrounding Variants

1 paper

NM_016169.4

p.A17T

c.49G>A

1 paper

NM_016169.4

p.A17P

c.49G>C

1 paper

NM_016169.4

p.A17D

c.50C>A

3 papers

NM_016169.4

p.A17V

c.50C>T

2 papers

NM_016169.4

p.P16P

c.48G>C

1 paper

NM_016169.4

p.P18S

c.52C>T

1 paper

NM_016169.4

p.P15L

c.44C>T

1 paper

NM_016169.4

p.G19fs

c.55_56fs

1 paper

NM_016169.4

p.A14A

c.42G>C

1 paper

NM_016169.4

p.G19A

c.56G>C

1 paper

NM_016169.4

p.G19V

c.56G>T

3 papers

NM_016169.4

p.A14P

c.40G>C