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.L146L

c.438G>A

Surrounding Variants

1 paper

NM_014434.4

p.L146M

c.436C>A

1 paper

NM_014434.4

p.R147Q

c.440G>A

1 paper

NM_014434.4

p.W145S

c.434G>C

1 paper

NM_014434.4

p.W150delins

c.448_449delinsCC

1 paper

NM_014434.4

p.D143Y

c.427G>T

1 paper

NM_014434.4

p.D151G

c.452A>G

1 paper

NM_014434.4

p.A140V

c.419C>T

1 paper

NM_014434.4

p.P161A

c.481C>G

1 paper

NM_014434.4

p.P171Splc

c.513-93A>G

2 papers

NM_014434.4

p.S122R

c.366C>G

1 paper

NM_014434.4

p.Q118*

c.352C>T

1 paper

NM_014434.4

p.N106I

c.317A>T