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

3 papers

NM_014780.5

p.Q1324*

c.3970C>T

Surrounding Variants

1 paper

NM_014780.5

p.Y1321C

c.3962A>G

2 papers

NM_014780.5

p.L1331L

c.3993G>A

1 paper

NM_014780.5

p.R1316H

c.3947G>A

1 paper

NM_014780.5

p.E1313*

c.3937G>T

2 papers

NM_014780.5

p.Q1303*

c.3907C>T

1 paper

NM_014780.5

p.G1293S

c.3877G>A

1 paper

NM_014780.5

p.Q1269R

c.3806A>G

1 paper

NM_014780.5

p.L1344L

c.4032T>C

1 paper

NM_014780.5

p.Q1269Splc

c.3807-18G>A

1 paper

NM_014780.5

p.E1354*

c.4060G>T

1 paper

NM_014780.5

p.E1354K

c.4060G>A

2 papers

NM_014780.5

p.G1370fs

c.4108_4109fs