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.G703W

c.2107G>T

Surrounding Variants

1 paper

NM_018706.7

p.G703R

c.2107G>A

1 paper

NM_018706.7

p.G703R

c.2107G>C

1 paper

NM_018706.7

p.P706Q

c.2117C>A

1 paper

NM_018706.7

p.P706L

c.2117C>T

1 paper

NM_018706.7

p.D707E

c.2121C>A

1 paper

NM_018706.7

p.D707E

c.2121C>G

1 paper

NM_018706.7

p.L697R

c.2090T>G

1 paper

NM_018706.7

p.S710C

c.2129C>G

4 papers

NM_018706.7

p.R712*

c.2134C>T

6 papers

NM_018706.7

p.R715C

c.2143C>T

1 paper

NM_018706.7

p.L717P

c.2150T>C

1 paper

NM_018706.7

p.W687*

c.2061G>A