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

1 paper

NM_005899.5

p.E268*

c.802G>T

Surrounding Variants

1 paper

NM_005899.5

p.P269L

c.806C>T

1 paper

NM_005899.5

p.R260W

c.778C>T

1 paper

NM_005899.5

p.V287I

c.859G>A

2 papers

NM_005899.5

p.R306Q

c.917G>A

2 papers

NM_005899.5

p.R312H

c.935G>A

1 paper

NM_005899.5

p.E315Q

c.943G>C

1 paper

NM_005899.5

p.Q322fs

c.964_965fs

1 paper

NM_005899.5

p.K328E

c.982A>G

1 paper

NM_005899.5

p.P341L

c.1022C>T

1 paper

NM_005899.5

p.P348fs

c.1042_1043fs

2 papers

NM_005899.5

p.P348L

c.1043C>T

1 paper

NM_005899.5

p.G226R

c.676G>C