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

5 papers

NM_018706.7

p.S777P

c.2329T>C

Surrounding Variants

1 paper

NM_018706.7

p.T778A

c.2332A>G

3 papers

NM_018706.7

p.P790L

c.2369C>T

1 paper

NM_018706.7

p.K801Splc

c.2402+3A>G

1 paper

NM_018706.7

p.Y814*

c.2442C>A

1 paper

NM_018706.7

p.Y814*

c.2442C>G

1 paper

NM_018706.7

p.Q819R

c.2456A>G

1 paper

NM_018706.7

p.G824R

c.2470G>C

3 papers

NM_018706.7

p.R834*

c.2500C>T

1 paper

NM_018706.7

p.P840L

c.2519C>T

3 papers

NM_018706.7

p.S862I

c.2585G>T

1 paper

NM_018706.7

p.Q882R

c.2645A>G

1 paper

NM_018706.7

p.L887_P894del8

c.2659_2681del24