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.A88T

c.262G>A

Surrounding Variants

1 paper

NM_004168.4

p.A88_C89ins4

c.262_266ins12

1 paper

NM_004168.4

p.A88_T91delFs

c.264_273del10

1 paper

NM_004168.4

p.A88G

c.263C>G

1 paper

NM_004168.4

p.A88V

c.263C>T

2 papers

NM_004168.4

p.T87I

c.260C>T

1 paper

NM_004168.4

p.T87delFs

c.260delC

1 paper

NM_004168.4

p.N86insFs

c.258dupT

1 paper

NM_004168.4

p.N86S

c.257A>G

1 paper

NM_004168.4

p.C89*

c.267T>A

4 papers

NM_004168.4

p.N86D

c.256A>G

1 paper

NM_004168.4

p.V90_T91delFs

c.269_273del5

1 paper

NM_004168.4

p.T91_F94del0

c.271_282del12