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

4 papers

NM_016169.4

p.E283fs

c.847_848fs

Surrounding Variants

2 papers

NM_016169.4

p.E283Fs

c.847delinsCAFs

3 papers

NM_016169.4

p.E283fs

c.847_848fs

1 paper

NM_016169.4

p.E283G

c.848A>G

2 papers

NM_016169.4

p.P281L

c.842C>T

1 paper

NM_016169.4

p.D285G

c.854A>G

1 paper

NM_016169.4

p.E286_S288del3

c.856_863del9

4 papers

NM_016169.4

p.P282insFs

c.846dupC

2 papers

NM_016169.4

p.P282delFs

c.846delC

3 papers

NM_016169.4

p.R280Q

c.839G>A

1 paper

NM_016169.4

p.R280P

c.839G>C

1 paper

NM_016169.4

p.R280W

c.838C>T

1 paper

NM_016169.4

p.E286K

c.856G>A