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.N650S

c.1949A>G

Surrounding Variants

1 paper

NM_004168.4

p.N650D

c.1948A>G

1 paper

NM_004168.4

p.E651delFs

c.1951delG

4 papers

NM_004168.4

p.E651K

c.1951G>A

1 paper

NM_004168.4

p.L649L

c.1947G>A

2 papers

NM_004168.4

p.E651Q

c.1951G>C

1 paper

NM_004168.4

p.L649F

c.1947G>C

1 paper

NM_004168.4

p.E651fs

c.1951_1952fs

1 paper

NM_004168.4

p.L649F

c.1947G>T

1 paper

NM_004168.4

p.L649*

c.1946T>A

1 paper

NM_004168.4

p.L649S

c.1946T>C

1 paper

NM_004168.4

p.L649V

c.1945T>G

7 papers

NM_004168.4

p.L649fs

c.1945_1946fs