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.A442T

c.1324G>A

Surrounding Variants

1 paper

NM_004168.4

p.A442V

c.1325C>T

1 paper

NM_004168.4

p.A442delFs

c.1324_1325delGC

1 paper

NM_004168.4

p.C443Y

c.1328G>A

1 paper

NM_004168.4

p.A444_H447del4

c.1330_1340del12

4 papers

NM_004168.4

p.G439E

c.1316G>A

1 paper

NM_004168.4

p.G439A

c.1316G>C

1 paper

NM_004168.4

p.G439R

c.1315G>A

1 paper

NM_004168.4

p.G439R

c.1315G>C

1 paper

NM_004168.4

p.S445_V446ins5

c.1333_1337ins15

14 papers

NM_004168.4

p.S445L

c.1334C>T

1 paper

NM_004168.4

p.C438S

c.1313G>C

3 papers

NM_004168.4

p.C438F

c.1313G>T