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.R343H

c.1028G>A

Surrounding Variants

2 papers

NM_016169.4

p.R343L

c.1028G>T

1 paper

NM_016169.4

p.R343C

c.1027C>T

1 paper

NM_016169.4

p.P341Splc

c.1023-1G>A

1 paper

NM_016169.4

p.P341Splc

c.1023-2A>C

5 papers

NM_016169.4

p.S349G

c.1045A>G

1 paper

NM_016169.4

p.S351T

c.1052G>C

1 paper

NM_016169.4

p.S352A

c.1054T>G

1 paper

NM_016169.4

p.T353A

c.1057A>G

1 paper

NM_016169.4

p.T353S

c.1057A>T

3 papers

NM_016169.4

p.T353M

c.1058C>T

1 paper

NM_016169.4

p.A354T

c.1060G>A

1 paper

NM_016169.4

p.I355V

c.1063A>G