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.K442R

c.1325A>G

Surrounding Variants

1 paper

NM_016169.4

p.M443I

c.1329G>A

1 paper

NM_016169.4

p.M443I

c.1329G>C

1 paper

NM_016169.4

p.M443I

c.1329G>T

1 paper

NM_016169.4

p.L444S

c.1331T>C

1 paper

NM_016169.4

p.E445insFs

c.1333dupG

1 paper

NM_016169.4

p.E445K

c.1333G>A

1 paper

NM_016169.4

p.E445fs

c.1333_1334fs

1 paper

NM_016169.4

p.E445insFs

c.1335dupG

1 paper

NM_016169.4

p.F439S

c.1316T>C

1 paper

NM_016169.4

p.D446N

c.1336G>A

1 paper

NM_016169.4

p.E438fs

c.1312_1313fs

1 paper

NM_016169.4

p.E437E

c.1311A>G