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

3 papers

NM_004168.4

p.L435L

c.1305G>T

Surrounding Variants

1 paper

NM_004168.4

p.L435Q

c.1304T>A

1 paper

NM_004168.4

p.Y436H

c.1306T>C

1 paper

NM_004168.4

p.G439_A444ins2

c.1316_1330dup15

1 paper

NM_004168.4

p.G439_A444del0

c.1316_1330del15

1 paper

NM_004168.4

p.G434_L435ins1

c.1302_1303insAAA

3 papers

NM_004168.4

p.G434D

c.1301G>A

1 paper

NM_004168.4

p.A437T

c.1309G>A

2 papers

NM_004168.4

p.A437fs

c.1309_1310fs

1 paper

NM_004168.4

p.G434V

c.1301G>T

4 papers

NM_004168.4

p.G434S

c.1300G>A

1 paper

NM_004168.4

p.G434R

c.1300G>C

1 paper

NM_004168.4

p.G434delFs

c.1301_1302delGC