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.I473fs

c.1417_1418fs

Surrounding Variants

1 paper

NM_016169.4

p.I473N

c.1418T>A

1 paper

NM_016169.4

p.P475L

c.1424C>T

1 paper

NM_016169.4

p.D476D

c.1428C>T

1 paper

NM_016169.4

p.V477M

c.1429G>A

1 paper

NM_016169.4

p.V478M

c.1432G>A

2 papers

NM_016169.4

p.V478A

c.1433T>C

2 papers

NM_016169.4

p.W464*

c.1392G>A

1 paper

NM_016169.4

p.S481N

c.1442G>A

1 paper

NM_016169.4

p.S481T

c.1442G>C

2 papers

NM_016169.4

p.W464*

c.1391G>A

1 paper

NM_016169.4

p.W464R

c.1390T>A

1 paper

NM_016169.4

p.W464R

c.1390T>C