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.A43P

c.127G>C

Surrounding Variants

2 papers

NM_004168.4

p.A43T

c.127G>A

1 paper

NM_004168.4

p.A43fs

c.127_128fs

1 paper

NM_004168.4

p.R42R

c.126G>A

1 paper

NM_004168.4

p.R42K

c.125G>A

1 paper

NM_004168.4

p.R42delFs

c.126delG

1 paper

NM_004168.4

p.S44_V47del0

c.131_139del9

1 paper

NM_004168.4

p.S44F

c.131C>T

2 papers

NM_004168.4

p.R42insFs

c.124_125dupAG

1 paper

NM_004168.4

p.K41Q

c.121A>C

2 papers

NM_004168.4

p.K41E

c.121A>G

11 papers

NM_004168.4

p.A45T

c.133G>A

1 paper

NM_004168.4

p.A45_K46insFs

c.135_136ins13