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

7 papers

NM_014780.5

p.P861S

c.2581C>T

Surrounding Variants

3 papers

NM_014780.5

p.Y864*

c.2592T>G

2 papers

NM_014780.5

p.Y864*

c.2592T>A

1 paper

NM_014780.5

p.W865*

c.2594G>A

1 paper

NM_014780.5

p.W865*

c.2595G>A

1 paper

NM_014780.5

p.K855E

c.2563A>G

1 paper

NM_014780.5

p.A853delFs

c.2559delG

2 papers

NM_014780.5

p.N868S

c.2603A>G

1 paper

NM_014780.5

p.G869S

c.2605G>A

2 papers

NM_014780.5

p.A871V

c.2612C>T

3 papers

NM_014780.5

p.G872S

c.2614G>A

2 papers

NM_014780.5

p.V844delFs

c.2530delC

1 paper

NM_014780.5

p.S867_T877del11

c.2599_2630del33