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

1–12 of 436 variants

15 papers

NM_014780.5

p.H1464P

c.4391A>C

12 papers

NM_014780.5

p.R1445*

c.4333C>T

12 papers

NM_014780.5

p.R1573*

c.4717C>T

9 papers

NM_014780.5

p.W996*

c.2988G>A

7 papers

NM_014780.5

p.P861S

c.2581C>T

7 papers

NM_014780.5

p.L1014R

c.3041T>G

6 papers

NM_014780.5

p.W996*

c.2987G>A

6 papers

NM_014780.5

p.W1127delFs

c.3379_3380delCA

6 papers

NM_014780.5

p.R1241_Q1250insFs

c.3722_3749dup28

6 papers

NM_014780.5

p.R1440*

c.4318C>T

6 papers

NM_014780.5

p.R1528insFs

c.4582_4583insT

6 papers

NM_014780.5

p.L1588P

c.4763T>C