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.A83P

c.247G>C

Surrounding Variants

9 papers

NM_004168.4

p.A83V

c.248C>T

1 paper

NM_004168.4

p.E82D

c.246G>C

1 paper

NM_004168.4

p.E82D

c.246G>T

1 paper

NM_004168.4

p.E82_A83delFs

c.246_247delGG

1 paper

NM_004168.4

p.E82fs

c.244_245fs

2 papers

NM_004168.4

p.G84E

c.251G>A

2 papers

NM_004168.4

p.E82_G84delFs

c.245_252del8

5 papers

NM_004168.4

p.S81F

c.242C>T

1 paper

NM_004168.4

p.G84G

c.252G>C

1 paper

NM_004168.4

p.F85ins0

c.253_255dupTTT

1 paper

NM_004168.4

p.F85_N86insFs

c.253_256dup4

1 paper

NM_004168.4

p.F85delFs

c.255delT