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.R163Q

c.488G>A

Surrounding Variants

1 paper

NM_018706.7

p.E156*

c.466G>T

1 paper

NM_018706.7

p.Q174*

c.520C>T

1 paper

NM_018706.7

p.R149Q

c.446G>A

1 paper

NM_018706.7

p.R149L

c.446G>T

1 paper

NM_018706.7

p.R149W

c.445C>T

1 paper

NM_018706.7

p.K148Q

c.442A>C

1 paper

NM_018706.7

p.K143N

c.429A>C

1 paper

NM_018706.7

p.K143N

c.429A>T

1 paper

NM_018706.7

p.D144delFs

c.430delG

1 paper

NM_018706.7

p.Q138K

c.412C>A

1 paper

NM_018706.7

p.S135insFs

c.403_404insT

1 paper

NM_018706.7

p.L122F

c.364C>T