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.M1_A2insFs

c.3_4insA

Surrounding Variants

1 paper

NM_016169.4

p.A2S

c.4G>T

1 paper

NM_016169.4

p.M1insFs

c.2dupT

1 paper

NM_016169.4

p.M1V

c.1A>G

1 paper

NM_016169.4

p.M1L

c.1A>T

2 papers

NM_016169.4

p.L4L

c.12G>A

5 papers

NM_016169.4

p.L4L

c.12G>C

1 paper

NM_016169.4

p.R5L

c.14G>T

1 paper

NM_016169.4

p.P6delFs

c.17delC

1 paper

NM_016169.4

p.P6fs

c.16_17fs

1 paper

NM_016169.4

p.S7G

c.19A>G

2 papers

NM_016169.4

p.T13_P18insFs

c.37_53dup17

1 paper

NM_016169.4

p.G8fs

c.22_23fs