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

6 papers

NM_016169.4

p.R362C

c.1084C>T

Surrounding Variants

1 paper

NM_016169.4

p.R362H

c.1085G>A

1 paper

NM_016169.4

p.T363A

c.1087A>G

1 paper

NM_016169.4

p.T363M

c.1088C>T

1 paper

NM_016169.4

p.R364W

c.1090C>T

1 paper

NM_016169.4

p.E359G

c.1076A>G

2 papers

NM_016169.4

p.E359delFs

c.1077delG

1 paper

NM_016169.4

p.Q365*

c.1093C>T

1 paper

NM_016169.4

p.E359Q

c.1075G>C

1 paper

NM_016169.4

p.E359fs

c.1075_1076fs

1 paper

NM_016169.4

p.Q365L

c.1094A>T

3 papers

NM_016169.4

p.L366fs

c.1096_1097fs

3 papers

NM_016169.4

p.L366_F373Fs

c.1096_1117delinsGAAFs