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

3 papers

NM_004168.4

p.G39delFs

c.117delG

Surrounding Variants

1 paper

NM_004168.4

p.D38E

c.114T>A

1 paper

NM_004168.4

p.D38E

c.114T>G

20 papers

NM_004168.4

p.D38V

c.113A>T

1 paper

NM_004168.4

p.D38N

c.112G>A

1 paper

NM_004168.4

p.D38H

c.112G>C

1 paper

NM_004168.4

p.D38insFs

c.112_113ins2

1 paper

NM_004168.4

p.G39_N40delFs

c.117_120del4

1 paper

NM_004168.4

p.D38delFs

c.112delG

1 paper

NM_004168.4

p.N40insFs

c.118_119insGT

1 paper

NM_004168.4

p.N40fs

c.118_119fs

1 paper

NM_004168.4

p.N40D

c.118A>G

2 papers

NM_004168.4

p.N40fs

c.118_119fs