Varaico: Literature-Extracted Genetic Variants

SDHA

1,054 papers

RefSeq Summary

This gene encodes a major catalytic subunit of succinate-ubiquinone oxidoreductase, a complex of the mitochondrial respiratory chain. The complex is composed of four nuclear-encoded subunits and is lo...

Pfam Domains

FAD_binding_2aa 63–457UCSCFAD binding domain

Succ_DH_flav_Caa 512–664UCSCFumarate reductase flavoprotein C-term

Gene Aliases

HGNC Name

succinate dehydrogenase complex flavoprotein subunit A

HGNC Previous Symbol

SDH2

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_004168.4

p.G504R

c.1510G>A

Surrounding Variants

1 paper

NM_004168.4

p.G504R

c.1510G>C

1 paper

NM_004168.4

p.S505delFs

c.1513delA

1 paper

NM_004168.4

p.S505fs

c.1513_1514fs

1 paper

NM_004168.4

p.S505N

c.1514G>A

1 paper

NM_004168.4

p.I506L

c.1516A>C

1 paper

NM_004168.4

p.I506V

c.1516A>G

1 paper

NM_004168.4

p.I506L

c.1516A>T

1 paper

NM_004168.4

p.A502_D503insC

c.1504_1508ins3

1 paper

NM_004168.4

p.I506M

c.1518A>G

1 paper

NM_004168.4

p.F501Y

c.1502T>A

1 paper

NM_004168.4

p.F501C

c.1502T>G

1 paper

NM_004168.4

p.T508P

c.1522A>C