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.H694R

c.2081A>G

Surrounding Variants

1 paper

NM_005899.5

p.K689E

c.2065A>G

1 paper

NM_005899.5

p.E706D

c.2118G>C

1 paper

NM_005899.5

p.E706D

c.2118G>T

1 paper

NM_005899.5

p.D707E

c.2121T>A

1 paper

NM_005899.5

p.D707E

c.2121T>G

1 paper

NM_005899.5

p.E708E

c.2124G>A

1 paper

NM_005899.5

p.D710E

c.2130T>A

1 paper

NM_005899.5

p.D710E

c.2130T>G

1 paper

NM_005899.5

p.E714del1

c.2140_2141delGAG

1 paper

NM_005899.5

p.I734T

c.2201T>C

1 paper

NM_005899.5

p.C739Y

c.2216G>A

1 paper

NM_005899.5

p.L755F

c.2263C>T