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.Q1269R

c.3806A>G

Surrounding Variants

1 paper

NM_014780.5

p.S1256_E1265del10

c.3766_3794del30

2 papers

NM_014780.5

p.A1251_I1254delFs

c.3753_3762del10

1 paper

NM_014780.5

p.V1252fs

c.3754_3755fs

3 papers

NM_014780.5

p.V1252fs

c.3754_3755fs

2 papers

NM_014780.5

p.Q1250delFs

c.3750delT

6 papers

NM_014780.5

p.R1241_Q1250insFs

c.3722_3749dup28

1 paper

NM_014780.5

p.C1248Y

c.3743G>A

2 papers

NM_014780.5

p.G1234_G1235del2

c.3700_3704del6

4 papers

NM_014780.5

p.R1232Q

c.3695G>A

1 paper

NM_014780.5

p.Q1229*

c.3685C>T

1 paper

NM_014780.5

p.Q1269Splc

c.3807-18G>A

2 papers

NM_014780.5

p.H1215_V1216Splc

c.3646-2A>G