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.T13_P18delFs

c.37_53del17

Surrounding Variants

2 papers

NM_016169.4

p.T13_P18insFs

c.37_53dup17

1 paper

NM_016169.4

p.G8fs

c.22_23fs

1 paper

NM_016169.4

p.G8_P10delFs

c.23_29del7

1 paper

NM_016169.4

p.S7G

c.19A>G

1 paper

NM_016169.4

p.P10_G11insFs

c.30_31insCC

1 paper

NM_016169.4

p.P6fs

c.16_17fs

1 paper

NM_016169.4

p.P10fs

c.28_29fs

1 paper

NM_016169.4

p.P10L

c.29C>T

1 paper

NM_016169.4

p.P6delFs

c.17delC

1 paper

NM_016169.4

p.G11delFs

c.31_32delGG

1 paper

NM_016169.4

p.R5L

c.14G>T

8 papers

NM_016169.4

p.G11R

c.31G>C