Varaico: Literature-Extracted Genetic Variants

DHTKD1

191 papers

RefSeq Summary

This gene encodes a component of a mitochondrial 2-oxoglutarate-dehydrogenase-complex-like protein involved in the degradation pathways of several amino acids, including lysine. Mutations in this gene...

Pfam Domains

E1_dhaa 195–504UCSCDehydrogenase E1 component

Transket_pyraa 567–773UCSCTransketolase, pyrimidine binding domain

OxoGdeHyase_Caa 776–918UCSC2-oxoglutarate dehydrogenase C-terminal

Gene Aliases

HGNC Name

dehydrogenase E1 and transketolase domain containing 1

HGNC Alias Symbols

KIAA1630; MGC3090; DKFZP762M115; CMT2Q; OADC-E1; OADH-E1; E1a

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_018706.7

p.A574V

c.1721C>T

Surrounding Variants

1 paper

NM_018706.7

p.A574T

c.1720G>A

1 paper

NM_018706.7

p.D570V

c.1709A>T

1 paper

NM_018706.7

p.L579F

c.1737G>C

1 paper

NM_018706.7

p.L579F

c.1737G>T

1 paper

NM_018706.7

p.G580D

c.1739G>A

1 paper

NM_018706.7

p.G586Splc

c.1756+1G>T

1 paper

NM_018706.7

p.R559G

c.1675A>G

1 paper

NM_018706.7

p.S558F

c.1673C>T

1 paper

NM_018706.7

p.G586Splc

c.1756+16T>C

7 papers

NM_018706.7

p.I607M

c.1821C>G

1 paper

NM_018706.7

p.T613M

c.1838C>T

1 paper

NM_018706.7

p.P625Q

c.1874C>A