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.L562V

c.1684C>G

Surrounding Variants

2 papers

NM_004168.4

p.L562M

c.1684C>A

3 papers

NM_004168.4

p.L562L

c.1684C>T

7 papers

NM_004168.4

p.T560T

c.1680G>A

1 paper

NM_004168.4

p.T560R

c.1679C>G

2 papers

NM_004168.4

p.T560M

c.1679C>T

1 paper

NM_004168.4

p.V563V

c.1689G>A

1 paper

NM_004168.4

p.T560A

c.1678A>G

9 papers

NM_004168.4

p.E564K

c.1690G>A

1 paper

NM_004168.4

p.E564V

c.1691A>T

1 paper

NM_004168.4

p.T565N

c.1694C>A

1 paper

NM_004168.4

p.W558C

c.1674G>C

1 paper

NM_004168.4

p.W558C

c.1674G>T