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

1–12 of 559 variants

18 papers

NM_016169.4

p.R123C

c.367C>T

16 papers

NM_016169.4

p.A340S

c.1018G>T

15 papers

NM_016169.4

p.P24insFs

c.71dupC

13 papers

NM_016169.4

p.T13P

c.37A>C

12 papers

NM_016169.4

p.P24delFs

c.71delC

12 papers

NM_016169.4

p.P341Splc

c.1022+1G>A

12 papers

NM_016169.4

p.I433I

c.1299T>C

11 papers

NM_016169.4

p.V369I

c.1105G>A

9 papers

NM_016169.4

p.R146*

c.436C>T

8 papers

NM_016169.4

p.G11R

c.31G>C

8 papers

NM_016169.4

p.R299*

c.895C>T

8 papers

NM_016169.4

p.P482L

c.1445C>T