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.S44F

c.131C>T

Surrounding Variants

1 paper

NM_004168.4

p.S44_V47del0

c.131_139del9

11 papers

NM_004168.4

p.A45T

c.133G>A

1 paper

NM_004168.4

p.A45_K46insFs

c.135_136ins13

1 paper

NM_004168.4

p.A45D

c.134C>A

2 papers

NM_004168.4

p.A45V

c.134C>T

2 papers

NM_004168.4

p.A43T

c.127G>A

2 papers

NM_004168.4

p.A43P

c.127G>C

1 paper

NM_004168.4

p.A43fs

c.127_128fs

11 papers

NM_004168.4

p.K46E

c.136A>G

1 paper

NM_004168.4

p.R42R

c.126G>A

1 paper

NM_004168.4

p.K46T

c.137A>C

2 papers

NM_004168.4

p.K46R

c.137A>G