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.L496I

c.1486C>A

Surrounding Variants

1 paper

NM_004168.4

p.N495K

c.1485T>A

1 paper

NM_004168.4

p.L496_D497del2

c.1486_1490del6

1 paper

NM_004168.4

p.N495H

c.1483A>C

1 paper

NM_004168.4

p.N495D

c.1483A>G

1 paper

NM_004168.4

p.D497E

c.1491C>A

1 paper

NM_004168.4

p.D497E

c.1491C>G

1 paper

NM_004168.4

p.M494T

c.1481T>C

2 papers

NM_004168.4

p.K498Q

c.1492A>C

1 paper

NM_004168.4

p.M494V

c.1480A>G

3 papers

NM_004168.4

p.K498R

c.1493A>G

1 paper

NM_004168.4

p.L499insFs

c.1496dupT

1 paper

NM_004168.4

p.V493L

c.1477G>C