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.E376D

c.1128G>T

Surrounding Variants

1 paper

NM_016169.4

p.E376D

c.1128G>C

2 papers

NM_016169.4

p.S377F

c.1130C>T

2 papers

NM_016169.4

p.E376K

c.1126G>A

1 paper

NM_016169.4

p.G378delFs

c.1133delG

1 paper

NM_016169.4

p.G378R

c.1132G>A

1 paper

NM_016169.4

p.G378R

c.1132G>C

1 paper

NM_016169.4

p.G378fs

c.1132_1133fs

3 papers

NM_016169.4

p.Q375*

c.1123C>T

1 paper

NM_016169.4

p.N374K

c.1122C>A

1 paper

NM_016169.4

p.N374K

c.1122C>G

1 paper

NM_016169.4

p.N374N

c.1122C>T

1 paper

NM_016169.4

p.A379D

c.1136C>A