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.E587K

c.1759G>A

Surrounding Variants

1 paper

NM_004168.4

p.E587G

c.1760A>G

1 paper

NM_004168.4

p.K586N

c.1758G>C

1 paper

NM_004168.4

p.K586N

c.1758G>T

1 paper

NM_004168.4

p.K586R

c.1757A>G

1 paper

NM_004168.4

p.S588*

c.1763C>A

1 paper

NM_004168.4

p.S588*

c.1763C>G

3 papers

NM_004168.4

p.S588L

c.1763C>T

12 papers

NM_004168.4

p.R585Q

c.1754G>A

2 papers

NM_004168.4

p.R589G

c.1765C>G

38 papers

NM_004168.4

p.R589W

c.1765C>T

24 papers

NM_004168.4

p.R585W

c.1753C>T

1 paper

NM_004168.4

p.G590delFs

c.1769delG