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

7 papers

NM_014780.5

p.L1014R

c.3041T>G

Surrounding Variants

1 paper

NM_014780.5

p.R1019H

c.3056G>A

2 papers

NM_014780.5

p.D1026fs

c.3076_3077fs

2 papers

NM_014780.5

p.D1026delFs

c.3076delC

2 papers

NM_014780.5

p.R1027H

c.3080G>A

1 paper

NM_014780.5

p.P1030fs

c.3088_3089fs

1 paper

NM_014780.5

p.P1030delFs

c.3089delG

1 paper

NM_014780.5

p.A1035V

c.3104C>T

1 paper

NM_014780.5

p.Q1036*

c.3106C>T

3 papers

NM_014780.5

p.W1043*

c.3128G>A

3 papers

NM_014780.5

p.W1043*

c.3129G>A

1 paper

NM_014780.5

p.L1046fs

c.3136_3137fs

4 papers

NM_014780.5

p.L1046delFs

c.3136delG