Varaico: Literature-Extracted Genetic Variants

CUL7

227 papers

RefSeq Summary

The protein encoded by this gene is a component of an E3 ubiquitin-protein ligase complex. The encoded protein interacts with TP53, CUL9, and FBXW8 proteins. Defects in this gene are a cause of 3M syn...

Pfam Domains

CUL7_CUL9_Naa 6–91UCSCCUL7/CUL9, N-terminal beta-barrel domain

TPR_CUL9aa 164–199UCSCCullin-9-like, TPR repeats

TPR_CUL9aa 214–290UCSCCullin-9-like, TPR repeats

Cul7aa 360–434UCSCMouse development and cellular proliferation protein Cullin-7

Cul7aa 392–466UCSCMouse development and cellular proliferation protein Cullin-7

ARM_CUL7_CUL9aa 645–815UCSCCUL7/CUL9 ARM repeat domain

Gene Aliases

HGNC Name

cullin 7

HGNC Previous Symbol

KIAA0076

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_014780.5

p.F1168L

c.3504T>G

Surrounding Variants

1 paper

NM_014780.5

p.F1168L

c.3504T>A

1 paper

NM_014780.5

p.F1168L

c.3502T>C

1 paper

NM_014780.5

p.R1164Q

c.3491G>A

1 paper

NM_014780.5

p.R1164W

c.3490C>T

1 paper

NM_014780.5

p.H1175Y

c.3523C>T

2 papers

NM_014780.5

p.Q1180*

c.3538C>T

1 paper

NM_014780.5

p.V1155V

c.3465G>A

3 papers

NM_014780.5

p.A1192V

c.3575C>T

1 paper

NM_014780.5

p.A1202V

c.3605C>T

3 papers

NM_014780.5

p.G1203insFs

c.3608dupG

1 paper

NM_014780.5

p.A1204S

c.3610G>T

1 paper

NM_014780.5

p.A1204G

c.3611C>G