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.L80F

c.238C>T

Surrounding Variants

1 paper

NM_004168.4

p.L80insFs

c.239dupT

1 paper

NM_004168.4

p.L80P

c.239T>C

1 paper

NM_004168.4

p.G79D

c.236G>A

1 paper

NM_004168.4

p.S81delFs

c.242_243delCT

1 paper

NM_004168.4

p.S81_A88delFs

c.241_262del22

1 paper

NM_004168.4

p.G79_L80insFs

c.236_239dup4

1 paper

NM_004168.4

p.S81delFs

c.242delC

5 papers

NM_004168.4

p.S81F

c.242C>T

2 papers

NM_004168.4

p.E82_G84delFs

c.245_252del8

1 paper

NM_004168.4

p.E82fs

c.244_245fs

1 paper

NM_004168.4

p.F78insFs

c.232_233insAA

1 paper

NM_004168.4

p.F78_S81delFs

c.234_243del10