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

3 papers

NM_016169.4

p.P341L

c.1022C>T

Surrounding Variants

12 papers

NM_016169.4

p.P341Splc

c.1022+1G>A

1 paper

NM_016169.4

p.P341Splc

c.1022+1G>T

4 papers

NM_016169.4

p.A340fs

c.1018_1019fs

16 papers

NM_016169.4

p.A340S

c.1018G>T

2 papers

NM_016169.4

p.A340delFs

c.1019delC

1 paper

NM_016169.4

p.R339P

c.1016G>C

2 papers

NM_016169.4

p.R339W

c.1015C>T

1 paper

NM_016169.4

p.A340delFs

c.1018delG

1 paper

NM_016169.4

p.D338H

c.1012G>C

1 paper

NM_016169.4

p.H337Y

c.1009C>T

1 paper

NM_016169.4

p.L335Fs

c.1003delinsGAFs

1 paper

NM_016169.4

p.Q332E

c.994C>G