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.G3W

c.7G>T

Surrounding Variants

1 paper

NM_004168.4

p.G3R

c.7G>A

1 paper

NM_004168.4

p.G3A

c.8G>C

1 paper

NM_004168.4

p.G3_R5delFs

c.9_13del5

1 paper

NM_004168.4

p.G3_L7delFs

c.9_19del11

2 papers

NM_004168.4

p.S2*

c.5C>A

1 paper

NM_004168.4

p.S2Fs

c.5delinsAAAFs

1 paper

NM_004168.4

p.G3insFs

c.9dupG

2 papers

NM_004168.4

p.S2delins

c.5delinsGAAA

3 papers

NM_004168.4

p.S2L

c.5C>T

1 paper

NM_004168.4

p.S2delFs

c.6delG

1 paper

NM_004168.4

p.G3delFs

c.7_8delGG

2 papers

NM_004168.4

p.V4I

c.10G>A