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

2 papers

NM_016169.4

p.Y60*

c.180C>A

Surrounding Variants

2 papers

NM_016169.4

p.Y60*

c.180C>G

1 paper

NM_016169.4

p.W61*

c.182G>A

1 paper

NM_016169.4

p.W61*

c.183G>A

1 paper

NM_016169.4

p.W61Splc

c.182+1G>C

4 papers

NM_016169.4

p.W61Splc

c.182+3A>T

1 paper

NM_016169.4

p.V58fs

c.172_173fs

3 papers

NM_016169.4

p.I57M

c.171C>G

1 paper

NM_016169.4

p.W61Splc

c.182+8C>G

1 paper

NM_016169.4

p.I57insFs

c.171dupC

1 paper

NM_016169.4

p.T55fs

c.163_164fs

2 papers

NM_016169.4

p.W61Splc

c.182+16C>T

1 paper

NM_016169.4

p.Q53*

c.157C>T