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.Q432_I433Splc

c.1297-6T>G

Surrounding Variants

2 papers

NM_016169.4

p.Q432_I433Splc

c.1297-3C>A

3 papers

NM_016169.4

p.Q432_I433Splc

c.1297-1G>C

12 papers

NM_016169.4

p.I433I

c.1299T>C

1 paper

NM_016169.4

p.L435F

c.1305G>C

1 paper

NM_016169.4

p.L435F

c.1305G>T

1 paper

NM_016169.4

p.T436I

c.1307C>T

2 papers

NM_016169.4

p.E437K

c.1309G>A

1 paper

NM_016169.4

p.E437*

c.1309G>T

1 paper

NM_016169.4

p.E437E

c.1311A>G

1 paper

NM_016169.4

p.E438delFs

c.1312delG

1 paper

NM_016169.4

p.E438fs

c.1312_1313fs

1 paper

NM_016169.4

p.F439S

c.1316T>C