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

1 paper

NM_014434.4

p.E22K

c.64G>A

Surrounding Variants

1 paper

NM_014434.4

p.S21A

c.61T>G

1 paper

NM_014434.4

p.E27A

c.80A>C

1 paper

NM_014434.4

p.E27G

c.80A>G

5 papers

NM_014434.4

p.R30G

c.88C>G

1 paper

NM_014434.4

p.G34G

c.102C>T

1 paper

NM_014434.4

p.R36R

c.108G>A

1 paper

NM_014434.4

p.V37V

c.111G>A

4 papers

NM_014434.4

p.S3R

c.7A>C

1 paper

NM_014434.4

p.S3C

c.7A>T

1 paper

NM_014434.4

p.M1L

c.1A>C

2 papers

NM_014434.4

p.M1L

c.1A>T

1 paper

NM_014434.4

p.L48R

c.143T>G