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

3 papers

NM_004168.4

p.D596G

c.1787A>G

Surrounding Variants

4 papers

NM_004168.4

p.D596H

c.1786G>C

1 paper

NM_004168.4

p.D596Y

c.1786G>T

1 paper

NM_004168.4

p.Y597H

c.1789T>C

1 paper

NM_004168.4

p.E595*

c.1783G>T

2 papers

NM_004168.4

p.K598R

c.1793A>G

1 paper

NM_004168.4

p.R594K

c.1781G>A

7 papers

NM_004168.4

p.K598N

c.1794G>C

7 papers

NM_004168.4

p.K598N

c.1794G>T

2 papers

NM_004168.4

p.K598_V599Splc

c.1794+1G>A

1 paper

NM_004168.4

p.A593V

c.1778C>T

1 paper

NM_004168.4

p.A593T

c.1777G>A

1 paper

NM_004168.4

p.K598_V599Splc

c.1794+3G>A