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.T100delFs

c.298delA

Surrounding Variants

2 papers

NM_004168.4

p.T100_V101delFs

c.298_301del4

1 paper

NM_004168.4

p.T100fs

c.298_299fs

7 papers

NM_004168.4

p.H99R

c.296A>G

2 papers

NM_004168.4

p.T100A

c.298A>G

2 papers

NM_004168.4

p.H99delFs

c.297delC

1 paper

NM_004168.4

p.T100S

c.299C>G

5 papers

NM_004168.4

p.H99Y

c.295C>T

1 paper

NM_004168.4

p.T100I

c.299C>T

1 paper

NM_004168.4

p.H99delFs

c.296delA

1 paper

NM_004168.4

p.H99delFs

c.295delC

1 paper

NM_004168.4

p.V101delFs

c.301delG

2 papers

NM_004168.4

p.S98L

c.293C>T