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_001168370.2

p.V1556insFs

c.4666dupG

Surrounding Variants

1 paper

NM_014780.5

p.R1528*

c.4582C>T

6 papers

NM_014780.5

p.R1528insFs

c.4582_4583insT

3 papers

NM_014780.5

p.S1536L

c.4607C>T

1 paper

NM_014780.5

p.V1541M

c.4621G>A

1 paper

NM_014780.5

p.R1542Q

c.4625G>A

1 paper

NM_014780.5

p.E1553K

c.4657G>A

1 paper

NM_014780.5

p.E1555K

c.4663G>A

1 paper

NM_014780.5

p.G1523R

c.4567G>C

1 paper

NM_014780.5

p.E1516D

c.4548G>T

1 paper

NM_014780.5

p.E1516D

c.4548G>C

1 paper

NM_014780.5

p.R1564Q

c.4691G>A

1 paper

NM_014780.5

p.L1512insFs

c.4534dupC