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

29 papers

NM_004168.4

p.R512*

c.1534C>T

Surrounding Variants

3 papers

NM_004168.4

p.R512Q

c.1535G>A

1 paper

NM_004168.4

p.R512P

c.1535G>C

1 paper

NM_004168.4

p.L511Q

c.1532T>A

4 papers

NM_004168.4

p.L511P

c.1532T>C

1 paper

NM_004168.4

p.L511V

c.1531C>G

1 paper

NM_004168.4

p.L513F

c.1537C>T

1 paper

NM_004168.4

p.S514R

c.1540A>C

1 paper

NM_004168.4

p.S514delFs

c.1541_1542delGC

1 paper

NM_004168.4

p.S514T

c.1541G>C

4 papers

NM_004168.4

p.S509*

c.1526C>A

1 paper

NM_004168.4

p.S514R

c.1542C>A

1 paper

NM_004168.4

p.S509W

c.1526C>G