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.R254K

c.761G>A

Surrounding Variants

1 paper

NM_016169.4

p.R254T

c.761G>C

1 paper

NM_016169.4

p.E253*

c.757G>T

3 papers

NM_016169.4

p.Q252_E253Splc

c.757-2A>G

1 paper

NM_016169.4

p.K257R

c.770A>G

1 paper

NM_016169.4

p.K257I

c.770A>T

1 paper

NM_016169.4

p.E260K

c.778G>A

1 paper

NM_016169.4

p.E260fs

c.778_779fs

1 paper

NM_016169.4

p.T261delFs

c.783delA

1 paper

NM_016169.4

p.D262D

c.786T>C

1 paper

NM_016169.4

p.G263S

c.787G>A

1 paper

NM_016169.4

p.S264insFs

c.790_791insT

1 paper

NM_016169.4

p.S264_N265ins4

c.790_794ins12