Varaico: Literature-Extracted Genetic Variants

NBR1

161 papers

RefSeq Summary

The protein encoded by this gene was originally identified as an ovarian tumor antigen monitored in ovarian cancer. The encoded protein contains a B-box/coiled-coil motif, which is present in many gen...

Pfam Domains

PB1aa 4–85UCSCPB1 domain

ZZaa 212–253UCSCZinc finger, ZZ type

N_BRCA1_IGaa 379–478UCSCIg-like domain from next to BRCA1 gene

UBA_NBR1_Caa 917–956UCSCNext to BRCA1 gene 1 protein-like, C-terminal UBA domain

Gene Aliases

HGNC Name

NBR1 autophagy cargo receptor

HGNC Previous Symbol

M17S2

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

4 papers

NM_005899.5

p.H923R

c.2768A>G

Surrounding Variants

1 paper

NM_005899.5

p.E926A

c.2777A>C

1 paper

NM_005899.5

p.G928A

c.2783G>C

1 paper

NM_005899.5

p.Q909_P910Splc

c.2728-9T>G

1 paper

NM_005899.5

p.Q955H

c.2865G>C

1 paper

NM_005899.5

p.Q955H

c.2865G>T

1 paper

NM_005899.5

p.G903E

c.2708G>A

1 paper

NM_005899.5

p.E813K

c.2437G>A

1 paper

NM_005899.5

p.N788T

c.2363A>C

1 paper

NM_005899.5

p.G780R

c.2338G>A

1 paper

NM_005899.5

p.G780R

c.2338G>C

1 paper

NM_005899.5

p.A779V

c.2336C>T

1 paper

NM_005899.5

p.K767T

c.2300A>C