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.H424Q

c.1272C>A

Surrounding Variants

2 papers

NM_004168.4

p.H424Q

c.1272C>G

9 papers

NM_004168.4

p.V425M

c.1273G>A

2 papers

NM_004168.4

p.V425L

c.1273G>C

2 papers

NM_004168.4

p.V425L

c.1273G>T

6 papers

NM_004168.4

p.V425G

c.1274T>G

1 paper

NM_004168.4

p.R423_H424delFs

c.1269_1270delGC

1 paper

NM_004168.4

p.N426S

c.1277A>G

3 papers

NM_004168.4

p.Q428_P433delFs

c.1283_1298del16

3 papers

NM_004168.4

p.Q428fs

c.1282_1283fs

1 paper

NM_004168.4

p.D429delFs

c.1285delG

2 papers

NM_004168.4

p.Q420_V421Splc

c.1261-1G>A

1 paper

NM_004168.4

p.Q420_V421Splc

c.1261-2A>C