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.Q54L

c.161A>T

Surrounding Variants

1 paper

NM_004168.4

p.Q54K

c.160C>A

7 papers

NM_004168.4

p.Q54*

c.160C>T

1 paper

NM_004168.4

p.Q54fs

c.160_161fs

15 papers

NM_004168.4

p.Y55H

c.163T>C

1 paper

NM_004168.4

p.Q54delFs

c.160delC

1 paper

NM_004168.4

p.Y55S

c.164A>C

2 papers

NM_004168.4

p.Y55C

c.164A>G

2 papers

NM_004168.4

p.P56_V57delFs

c.166_170del5

3 papers

NM_004168.4

p.A53T

c.157G>A

1 paper

NM_004168.4

p.A53S

c.157G>T

1 paper

NM_004168.4

p.P56delFs

c.166delC

2 papers

NM_004168.4

p.P56S

c.166C>T