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.K541T

c.1622A>C

Surrounding Variants

1 paper

NM_004168.4

p.K541*

c.1621A>T

6 papers

NM_004168.4

p.K541K

c.1623G>A

1 paper

NM_004168.4

p.L542F

c.1624C>T

1 paper

NM_004168.4

p.S540N

c.1619G>A

1 paper

NM_004168.4

p.L542P

c.1625T>C

1 paper

NM_004168.4

p.Y543H

c.1627T>C

1 paper

NM_004168.4

p.Y543C

c.1628A>G

2 papers

NM_004168.4

p.I539S

c.1616T>G

1 paper

NM_004168.4

p.I539fs

c.1615_1616fs

2 papers

NM_004168.4

p.Y543*

c.1629T>A

2 papers

NM_004168.4

p.Y543*

c.1629T>G

1 paper

NM_004168.4

p.G544R

c.1630G>C