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.V644_I645del2

c.1930_1934del6

Surrounding Variants

1 paper

NM_004168.4

p.P643R

c.1928C>G

2 papers

NM_004168.4

p.P643A

c.1927C>G

1 paper

NM_004168.4

p.P643S

c.1927C>T

5 papers

NM_004168.4

p.V644M

c.1930G>A

13 papers

NM_004168.4

p.V644V

c.1932G>A

3 papers

NM_004168.4

p.I645T

c.1934T>C

1 paper

NM_004168.4

p.I645M

c.1935C>G

2 papers

NM_004168.4

p.D646N

c.1936G>A

1 paper

NM_004168.4

p.D646insFs

c.1937_1938ins8

4 papers

NM_004168.4

p.E640G

c.1919A>G

1 paper

NM_004168.4

p.E640K

c.1918G>A

1 paper

NM_004168.4

p.K647R

c.1940A>G