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.N570Y

c.1708A>T

Surrounding Variants

1 paper

NM_004168.4

p.Q569R

c.1706A>G

1 paper

NM_004168.4

p.M572_L573insC

c.1714_1718ins3

1 paper

NM_004168.4

p.M572_L573ins4

c.1714_1718ins12

1 paper

NM_004168.4

p.L568fs

c.1702_1703fs

1 paper

NM_004168.4

p.L568V

c.1702C>G

1 paper

NM_004168.4

p.L568L

c.1702C>T

1 paper

NM_004168.4

p.M572R

c.1715T>G

1 paper

NM_004168.4

p.E567_L568delFs

c.1701_1702delGC

1 paper

NM_004168.4

p.L573V

c.1717C>G

1 paper

NM_004168.4

p.L566L

c.1698G>T

1 paper

NM_004168.4

p.L566R

c.1697T>G

4 papers

NM_004168.4

p.L566V

c.1696C>G