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

1 paper

NM_014780.5

p.Y989C

c.2966A>G

Surrounding Variants

1 paper

NM_014780.5

p.C982_F988del0

c.2945_2962del18

1 paper

NM_014780.5

p.R992W

c.2974C>T

3 papers

NM_014780.5

p.R992P

c.2975G>C

1 paper

NM_001168370.2

p.R1024Q

c.3071G>A

1 paper

NM_014780.5

p.R986C

c.2956C>T

1 paper

NM_001168370.2

p.Q1026delFs

c.3076delG

6 papers

NM_014780.5

p.W996*

c.2987G>A

1 paper

NM_014780.5

p.L981_C982delFs

c.2943_2944delAG

9 papers

NM_014780.5

p.W996*

c.2988G>A

1 paper

NM_014780.5

p.Q998*

c.2992C>T

1 paper

NM_014780.5

p.R978P

c.2933G>C

1 paper

NM_001168370.2

p.R1036C

c.3106C>T