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

4 papers

NM_004168.4

p.G555Splc

c.1663+1G>T

Surrounding Variants

33 papers

NM_004168.4

p.G555E

c.1664G>A

1 paper

NM_004168.4

p.G555R

c.1663G>A

1 paper

NM_004168.4

p.G555R

c.1663G>C

3 papers

NM_004168.4

p.G555*

c.1663G>T

5 papers

NM_004168.4

p.G555Splc

c.1663+3G>C

15 papers

NM_004168.4

p.R554Q

c.1661G>A

1 paper

NM_004168.4

p.R554P

c.1661G>C

27 papers

NM_004168.4

p.R554W

c.1660C>T

1 paper

NM_004168.4

p.D553A

c.1658A>C

2 papers

NM_004168.4

p.D553N

c.1657G>A

1 paper

NM_004168.4

p.D553_R554insA

c.1657_1661ins3

1 paper

NM_004168.4

p.D553_R554insTG

c.1657_1661ins6