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

1–12 of 2008 variants

112 papers

NM_004168.4

p.R31*

c.91C>T

38 papers

NM_004168.4

p.R589W

c.1765C>T

33 papers

NM_004168.4

p.G555E

c.1664G>A

31 papers

NM_004168.4

p.V657I

c.1969G>A

30 papers

NM_004168.4

p.M1V

c.1A>G

29 papers

NM_004168.4

p.R512*

c.1534C>T

27 papers

NM_004168.4

p.R554W

c.1660C>T

25 papers

NM_004168.4

p.R75*

c.223C>T

25 papers

NM_004168.4

p.T648_L649delFs

c.1944_1945delTT

24 papers

NM_004168.4

p.R451C

c.1351C>T

24 papers

NM_004168.4

p.R585W

c.1753C>T

22 papers

NM_004168.4

p.S456L

c.1367C>T