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.A195P

c.583G>C

Surrounding Variants

1 paper

NM_018706.7

p.M198T

c.593T>C

2 papers

NM_018706.7

p.Y190F

c.569A>T

1 paper

NM_018706.7

p.R189*

c.565C>T

1 paper

NM_018706.7

p.S185L

c.554C>T

2 papers

NM_018706.7

p.F184delFs

c.550delT

1 paper

NM_018706.7

p.T182I

c.545C>T

5 papers

NM_018706.7

p.A210S

c.628G>T

1 paper

NM_018706.7

p.G213R

c.637G>A

1 paper

NM_018706.7

p.G213R

c.637G>C

1 paper

NM_018706.7

p.D216G

c.647A>G

1 paper

NM_018706.7

p.D216E

c.648T>A

1 paper

NM_018706.7

p.D216E

c.648T>G