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

8 papers

NM_016169.4

p.R299*

c.895C>T

Surrounding Variants

1 paper

NM_016169.4

p.R299G

c.895C>G

3 papers

NM_016169.4

p.R299Q

c.896G>A

1 paper

NM_016169.4

p.R298R

c.894G>T

1 paper

NM_016169.4

p.S301delFs

c.902_903delCT

1 paper

NM_016169.4

p.L300_S301delFs

c.900_903del4

2 papers

NM_016169.4

p.R298Q

c.893G>A

1 paper

NM_016169.4

p.L300L

c.900C>A

1 paper

NM_016169.4

p.P297S

c.889C>T

1 paper

NM_016169.4

p.S301fs

c.901_902fs

1 paper

NM_016169.4

p.S301F

c.902C>T

1 paper

NM_016169.4

p.Q296L

c.887A>T

1 paper

NM_016169.4

p.Q296*

c.886C>T