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

2 papers

NM_004168.4

p.P477S

c.1429C>T

Surrounding Variants

1 paper

NM_004168.4

p.P477H

c.1430C>A

2 papers

NM_004168.4

p.P477L

c.1430C>T

1 paper

NM_004168.4

p.R476S

c.1428G>C

1 paper

NM_004168.4

p.R476S

c.1428G>T

1 paper

NM_004168.4

p.R476M

c.1427G>T

1 paper

NM_004168.4

p.G478delFs

c.1432delG

1 paper

NM_004168.4

p.G478R

c.1432G>A

1 paper

NM_004168.4

p.G478R

c.1432G>C

2 papers

NM_004168.4

p.G478Splc

c.1432+1G>C

4 papers

NM_004168.4

p.G478Splc

c.1432+1G>T

1 paper

NM_004168.4

p.C475Y

c.1424G>A

1 paper

NM_004168.4

p.C475S

c.1424G>C