Varaico: Literature-Extracted Genetic Variants

NDOR1

184 papers

RefSeq Summary

This gene encodes an NADPH-dependent diflavin reductase that contains both flavin mononucleotide (FMN) and flavin adenine dinucleotide (FAD) binding domains. The encoded protein catalyzes the transfer...

Pfam Domains

Flavodoxin_1aa 8–145UCSCFlavodoxin

FAD_binding_1aa 201–421UCSCFAD binding domain

NAD_binding_1aa 455–561UCSCOxidoreductase NAD-binding domain

Gene Aliases

HGNC Name

NADPH dependent diflavin oxidoreductase 1

HGNC Alias Symbols

NR1; bA350O14.9; CIAE1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_014434.4

p.W499*

c.1497G>A

Surrounding Variants

1 paper

NM_014434.4

p.W499*

c.1496G>A

1 paper

NM_014434.4

p.L508L

c.1522C>T

1 paper

NM_014434.4

p.R489Q

c.1466G>A

1 paper

NM_014434.4

p.F514insFs

c.1541dupT

1 paper

NM_014434.4

p.F484C

c.1451T>G

1 paper

NM_014434.4

p.S515fs

c.1543_1544fs

1 paper

NM_014434.4

p.F483L

c.1447T>C

2 papers

NM_014434.4

p.V522I

c.1564G>A

1 paper

NM_014434.4

p.Q525*

c.1573C>T

1 paper

NM_014434.4

p.G457E

c.1370G>A

1 paper

NM_014434.4

p.M564V

c.1690A>G

1 paper

NM_014434.4

p.G572A

c.1715G>C