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

6 papers

NM_014780.5

p.R1440*

c.4318C>T

Surrounding Variants

1 paper

NM_014780.5

p.E1439Q

c.4315G>C

12 papers

NM_014780.5

p.R1445*

c.4333C>T

NM_001168370.2

p.R1477*

c.4429C>T

1 paper

NM_014780.5

p.Q1433*

c.4297C>T

1 paper

NM_014780.5

p.Q1433E

c.4297C>G

1 paper

NM_014780.5

p.S1432delFs

c.4295_4296delAC

4 papers

NM_014780.5

p.W1448R

c.4342T>C

3 papers

NM_014780.5

p.W1448R

c.4342T>A

2 papers

NM_014780.5

p.G1452D

c.4355G>A

1 paper

NM_014780.5

p.W1453*

c.4358G>A

1 paper

NM_014780.5

p.W1453*

c.4359G>A

1 paper

NM_014780.5

p.W1453_E1455insFs

c.4359_4363dup5

1 paper

NM_014780.5

p.Q1457delFs

c.4369_4370delTG