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.L10delFs

c.28delC

Surrounding Variants

1 paper

NM_004168.4

p.L10fs

c.28_29fs

1 paper

NM_004168.4

p.L10_L11Fs

c.28_33delinsTAGGAGGCCCCTAFs

2 papers

NM_004168.4

p.R9Q

c.26G>A

2 papers

NM_004168.4

p.R9G

c.25C>G

1 paper

NM_004168.4

p.R9W

c.25C>T

1 paper

NM_004168.4

p.R9_A13del5

c.25_38del15

1 paper

NM_004168.4

p.R9_A19del11

c.25_56del33

1 paper

NM_004168.4

p.L11insFs

c.31_32insGG

2 papers

NM_004168.4

p.S8W

c.23C>G

1 paper

NM_004168.4

p.S8L

c.23C>T

1 paper

NM_004168.4

p.L11L

c.31C>T

2 papers

NM_004168.4

p.S8P

c.22T>C