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

1–12 of 86 variants

5 papers

NM_014434.4

p.R30G

c.88C>G

5 papers

NM_014434.4

p.S334T

c.1001G>C

4 papers

NM_014434.4

p.S3R

c.7A>C

4 papers

NM_014434.4

p.R218R

c.652A>C

2 papers

NM_014434.4

p.M1L

c.1A>T

2 papers

NM_014434.4

p.F56L

c.166T>C

2 papers

NM_014434.4

p.S122R

c.366C>G

2 papers

NM_014434.4

p.R380R

c.1140G>A

2 papers

NM_014434.4

p.W499*

c.1497G>A

2 papers

NM_014434.4

p.V522I

c.1564G>A

1 paper

NM_014434.4

p.M1L

c.1A>C

1 paper

NM_014434.4

p.S3C

c.7A>T