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

4 papers

NM_014780.5

p.G1370_E1371delFs

c.4108_4111del4

Surrounding Variants

1 paper

NM_014780.5

p.E1372fs

c.4114_4115fs

1 paper

NM_014780.5

p.E1372delFs

c.4115delT

2 papers

NM_014780.5

p.G1370fs

c.4108_4109fs

1 paper

NM_014780.5

p.E1375_E1376ins13

c.4123_4127ins39

1 paper

NM_014780.5

p.E1354*

c.4060G>T

1 paper

NM_014780.5

p.E1354K

c.4060G>A

1 paper

NM_014780.5

p.S1390fs

c.4168_4169fs

1 paper

NM_014780.5

p.S1390delFs

c.4169_4170delAG

3 papers

NM_014780.5

p.R1396*

c.4186C>T

1 paper

NM_014780.5

p.L1344L

c.4032T>C

5 papers

NM_014780.5

p.H1397delFs

c.4191delG

2 papers

NM_014780.5

p.S1398fs

c.4192_4193fs