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.V1484fs

c.4450_4451fs

Surrounding Variants

1 paper

NM_014780.5

p.V1484G

c.4451T>G

4 papers

NM_014780.5

p.S1483_V1484delFs

c.4449_4450delCA

1 paper

NM_014780.5

p.A1481V

c.4442C>T

4 papers

NM_014780.5

p.L1488P

c.4463T>C

1 paper

NM_014780.5

p.I1502T

c.4505T>C

1 paper

NM_014780.5

p.G1510V

c.4529G>T

1 paper

NM_014780.5

p.L1512insFs

c.4534dupC

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.G1523R

c.4567G>C

1 paper

NM_001168370.2

p.K1512insFs

c.4534dupA

1 paper

NM_014780.5

p.M1470V

c.4408A>G