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

1–12 of 105 variants

4 papers

NM_005899.5

p.H923R

c.2768A>G

2 papers

NM_005899.5

p.M1I

c.3G>A

2 papers

NM_005899.5

p.Q4Q

c.12G>A

2 papers

NM_005899.5

p.Q4H

c.12G>C

2 papers

NM_005899.5

p.L117Q

c.350T>A

2 papers

NM_005899.5

p.R306Q

c.917G>A

2 papers

NM_005899.5

p.R312H

c.935G>A

2 papers

NM_005899.5

p.P348L

c.1043C>T

1 paper

NM_005899.5

p.E14D

c.42A>C

1 paper

NM_005899.5

p.Q16L

c.47A>T

1 paper

NM_005899.5

p.K36E

c.106A>G

1 paper

NM_005899.5

p.F39L

c.115T>C