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.L452F

c.1354C>T

Surrounding Variants

9 papers

NM_004168.4

p.R451H

c.1352G>A

1 paper

NM_004168.4

p.R451S

c.1351C>A

1 paper

NM_004168.4

p.R451fs

c.1351_1352fs

24 papers

NM_004168.4

p.R451C

c.1351C>T

4 papers

NM_004168.4

p.G453R

c.1357G>A

4 papers

NM_004168.4

p.G453R

c.1357G>C

1 paper

NM_004168.4

p.R451_L452delFs

c.1351_1355del5

1 paper

NM_004168.4

p.G453E

c.1358G>A

1 paper

NM_004168.4

p.N450S

c.1349A>G

9 papers

NM_004168.4

p.A454T

c.1360G>A

2 papers

NM_004168.4

p.A454S

c.1360G>T

14 papers

NM_004168.4

p.A454E

c.1361C>A