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.V4I

c.10G>A

Surrounding Variants

1 paper

NM_004168.4

p.V4F

c.10G>T

1 paper

NM_004168.4

p.V4fs

c.10_11fs

2 papers

NM_004168.4

p.V4insFs

c.12dupC

1 paper

NM_004168.4

p.R5_L11insFs

c.13_31dup19

1 paper

NM_004168.4

p.V4_R5insFs

c.12_13insTG

3 papers

NM_004168.4

p.V4V

c.12C>T

1 paper

NM_004168.4

p.R5delFs

c.13_14delCG

1 paper

NM_004168.4

p.G3A

c.8G>C

1 paper

NM_004168.4

p.G3_R5delFs

c.9_13del5

1 paper

NM_004168.4

p.G3_L7delFs

c.9_19del11

1 paper

NM_004168.4

p.R5insFs

c.14dupG

1 paper

NM_004168.4

p.R5insFs

c.14_15insTG