Varaico: Literature-Extracted Genetic Variants

FLAD1

109 papers

RefSeq Summary

This gene encodes the enzyme that catalyzes adenylation of flavin mononucleotide (FMN) to form flavin adenine dinucleotide (FAD) coenzyme. Alternatively spliced transcript variants encoding distinct i...

Pfam Domains

MoCF_biosynthaa 114–273UCSCProbable molybdopterin binding domain

FLAD1_Maa 278–355UCSCFAD synthase, middle domain

PAPS_reductaa 398–555UCSCPhosphoadenosine phosphosulfate reductase domain

Gene Aliases

HGNC Name

flavin adenine dinucleotide synthetase 1

HGNC Alias Symbols

PP591; FAD1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

5 papers

NM_025207.5

p.S495del1

c.1483_1484delTCC

Surrounding Variants

1 paper

NM_025207.5

p.C499R

c.1495T>C

1 paper

NM_025207.5

p.S502S

c.1506C>T

1 paper

NM_025207.5

p.A483V

c.1448C>T

1 paper

NM_025207.5

p.A510P

c.1528G>C

1 paper

NM_025207.5

p.N515T

c.1544A>C

1 paper

NM_025207.5

p.L518L

c.1552C>T

1 paper

NM_025207.5

p.E464K

c.1390G>A

1 paper

NM_025207.5

p.Q459P

c.1376A>C

1 paper

NM_025207.5

p.R455S

c.1365G>T

1 paper

NM_025207.5

p.D451N

c.1351G>A

1 paper

NM_025207.5

p.L445L

c.1333C>T

1 paper

NM_025207.5

p.R437H

c.1310G>A