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.W1127delFs

c.3379_3380delCA

Surrounding Variants

2 papers

NM_014780.5

p.W1127*

c.3381G>A

2 papers

NM_014780.5

p.W1127*

c.3380G>A

2 papers

NM_014780.5

p.W1127fs

c.3379_3380fs

1 paper

NM_014780.5

p.L1130fs

c.3388_3389fs

4 papers

NM_014780.5

p.L1130_R1133delFs

c.3388_3397del10

1 paper

NM_014780.5

p.G1134S

c.3400G>A

1 paper

NM_014780.5

p.I1139T

c.3416T>C

1 paper

NM_014780.5

p.C1146R

c.3436T>C

1 paper

NM_014780.5

p.R1148Q

c.3443G>A

1 paper

NM_014780.5

p.E1152K

c.3454G>A

1 paper

NM_014780.5

p.V1155V

c.3465G>A

1 paper

NM_014780.5

p.R1164W

c.3490C>T