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.H592R

c.1775A>G

Surrounding Variants

1 paper

NM_004168.4

p.H592N

c.1774C>A

1 paper

NM_004168.4

p.H592fs

c.1774_1775fs

1 paper

NM_004168.4

p.H592Y

c.1774C>T

1 paper

NM_004168.4

p.H592Q

c.1776T>A

1 paper

NM_004168.4

p.H592H

c.1776T>C

1 paper

NM_004168.4

p.H592Q

c.1776T>G

1 paper

NM_004168.4

p.A593T

c.1777G>A

1 paper

NM_004168.4

p.A593S

c.1777G>T

5 papers

NM_004168.4

p.A591V

c.1772C>T

1 paper

NM_004168.4

p.A593V

c.1778C>T

4 papers

NM_004168.4

p.A591T

c.1771G>A

1 paper

NM_004168.4

p.G590G

c.1770C>T