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.Q217P

c.650A>C

Surrounding Variants

4 papers

NM_014434.4

p.R218R

c.652A>C

1 paper

NM_014434.4

p.R218*

c.652A>T

1 paper

NM_014434.4

p.N216T

c.647A>C

1 paper

NM_014434.4

p.T220del1

c.658_660delACC

1 paper

NM_014434.4

p.M213L

c.637A>T

1 paper

NM_014434.4

p.A211V

c.632C>T

1 paper

NM_014434.4

p.S206S

c.618G>C

1 paper

NM_014434.4

p.P203P

c.609G>A

1 paper

NM_014434.4

p.Q200R

c.599A>G

1 paper

NM_014434.4

p.I235V

c.703A>G

1 paper

NM_014434.4

p.S189S

c.567T>A

1 paper

NM_014434.4

p.P171Splc

c.513-93A>G