Varaico: Literature-Extracted Genetic Variants

Gene:NBR1
Variant:p.S372R

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.S372R
c.1116T>G
Surrounding Variants
1 paper
NM_005899.5
p.S372R
c.1116T>A
1 paper
NM_005899.5
p.S372R
c.1114A>C
1 paper
NM_005899.5
p.M370I
c.1110G>A
1 paper
NM_005899.5
p.M370I
c.1110G>C
1 paper
NM_005899.5
p.M370I
c.1110G>T
1 paper
NM_005899.5
p.M370T
c.1109T>C
1 paper
NM_005899.5
p.T390I
c.1169C>T
1 paper
NM_005899.5
p.D409V
c.1226A>T
1 paper
NM_005899.5
p.M415T
c.1244T>C
1 paper
NM_005899.5
p.E452G
c.1355A>G
1 paper
NM_005899.5
p.R460C
c.1378C>T
1 paper
NM_005899.5
p.G469E
c.1406G>A
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