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

10 papers

NM_004168.4

p.M1R

c.2T>G

Surrounding Variants

1 paper

NM_004168.4

p.M1K

c.2T>A

16 papers

NM_004168.4

p.M1T

c.2T>C

1 paper

NM_004168.4

p.M1insFs

c.3dupG

1 paper

NM_004168.4

p.M1fs

c.1_2fs

1 paper

NM_004168.4

p.M1insFs

c.2dupT

15 papers

NM_004168.4

p.M1L

c.1A>C

30 papers

NM_004168.4

p.M1V

c.1A>G

12 papers

NM_004168.4

p.M1L

c.1A>T

1 paper

NM_004168.4

p.M1_S8delFs

c.3_22del20

10 papers

NM_004168.4

p.M1I

c.3G>A

7 papers

NM_004168.4

p.M1I

c.3G>C

1 paper

NM_004168.4

p.M1_S2insFs

c.3_4insA