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.F333S

c.998T>C

Surrounding Variants

5 papers

NM_014434.4

p.S334T

c.1001G>C

1 paper

NM_014434.4

p.H323L

c.968A>T

1 paper

NM_014434.4

p.R348W

c.1042C>T

1 paper

NM_014434.4

p.E315K

c.943G>A

1 paper

NM_014434.4

p.E355_V356Splc

c.1065+5G>A

1 paper

NM_014434.4

p.R296Q

c.887G>A

1 paper

NM_014434.4

p.R288K

c.863G>A

1 paper

NM_014434.4

p.V283A

c.848T>C

2 papers

NM_014434.4

p.R380R

c.1140G>A

1 paper

NM_014434.4

p.S388A

c.1162T>G

1 paper

NM_014434.4

p.S389L

c.1166C>T

1 paper

NM_014434.4

p.P281L

c.842C>T