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.A102T

c.304G>A

Surrounding Variants

1 paper

NM_004168.4

p.A102V

c.305C>T

2 papers

NM_004168.4

p.A103T

c.307G>A

1 paper

NM_004168.4

p.A103S

c.307G>T

1 paper

NM_004168.4

p.V101delFs

c.301delG

7 papers

NM_004168.4

p.A103A

c.309A>G

1 paper

NM_004168.4

p.T100S

c.299C>G

1 paper

NM_004168.4

p.T100I

c.299C>T

1 paper

NM_004168.4

p.T100fs

c.298_299fs

2 papers

NM_004168.4

p.T100A

c.298A>G

1 paper

NM_004168.4

p.Q104fs

c.310_311fs

1 paper

NM_004168.4

p.Q104insFs

c.311_312insG

1 paper

NM_004168.4

p.Q104R

c.311A>G