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.E367Q

c.1099G>C

Surrounding Variants

2 papers

NM_016169.4

p.E367*

c.1099G>T

1 paper

NM_016169.4

p.E367delFs

c.1100delA

3 papers

NM_016169.4

p.L366fs

c.1096_1097fs

3 papers

NM_016169.4

p.L366_F373Fs

c.1096_1117delinsGAAFs

1 paper

NM_016169.4

p.Q365L

c.1094A>T

1 paper

NM_016169.4

p.Q365*

c.1093C>T

11 papers

NM_016169.4

p.V369I

c.1105G>A

1 paper

NM_016169.4

p.R364W

c.1090C>T

1 paper

NM_016169.4

p.T363M

c.1088C>T

1 paper

NM_016169.4

p.T363A

c.1087A>G

1 paper

NM_016169.4

p.L371Q

c.1112T>A

1 paper

NM_016169.4

p.R362H

c.1085G>A