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.L532_E534del3

c.1594_1601del9

Surrounding Variants

2 papers

NM_004168.4

p.V531M

c.1591G>A

1 paper

NM_004168.4

p.L532F

c.1596G>C

1 paper

NM_004168.4

p.L532F

c.1596G>T

2 papers

NM_004168.4

p.Q533E

c.1597C>G

1 paper

NM_004168.4

p.S530fs

c.1588_1589fs

1 paper

NM_004168.4

p.Q533P

c.1598A>C

1 paper

NM_004168.4

p.S530fs

c.1588_1589fs

1 paper

NM_004168.4

p.Q533H

c.1599A>C

1 paper

NM_004168.4

p.Q533H

c.1599A>T

1 paper

NM_004168.4

p.E534V

c.1601A>T

1 paper

NM_004168.4

p.G529R

c.1585G>A

1 paper

NM_004168.4

p.G529R

c.1585G>C