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

2 papers

NM_004168.4

p.P482S

c.1444C>T

Surrounding Variants

1 paper

NM_004168.4

p.P482fs

c.1444_1445fs

1 paper

NM_004168.4

p.P482delFs

c.1445_1446delCT

2 papers

NM_004168.4

p.P482H

c.1445C>A

1 paper

NM_004168.4

p.K480fs

c.1438_1439fs

1 paper

NM_004168.4

p.I484V

c.1450A>G

1 paper

NM_004168.4

p.K485E

c.1453A>G

1 paper

NM_004168.4

p.D479_K480insGT

c.1435_1439ins6

1 paper

NM_004168.4

p.K485N

c.1455A>C

1 paper

NM_004168.4

p.K485N

c.1455A>T

2 papers

NM_004168.4

p.G478V

c.1433G>T

1 paper

NM_004168.4

p.G478fs

c.1432_1433fs

1 paper

NM_004168.4

p.P486T

c.1456C>A