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.A21_W22Splc

c.63+1G>A

Surrounding Variants

1 paper

NM_004168.4

p.A21_W22Splc

c.63+1G>T

2 papers

NM_004168.4

p.A21_W22Splc

c.63+2T>G

1 paper

NM_004168.4

p.A21insFs

c.63dupG

1 paper

NM_004168.4

p.A21G

c.62C>G

1 paper

NM_004168.4

p.A21V

c.62C>T

1 paper

NM_004168.4

p.A21T

c.61G>A

1 paper

NM_004168.4

p.K20R

c.59A>G

1 paper

NM_004168.4

p.A21_W22Splc

c.63+8C>T

1 paper

NM_004168.4

p.A19T

c.55G>A

1 paper

NM_004168.4

p.A19fs

c.55_56fs

1 paper

NM_004168.4

p.A19delFs

c.57delC

1 paper

NM_004168.4

p.L18_A19insFs

c.54_55insC