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

6 papers

NM_018706.7

p.V360A

c.1079T>C

Surrounding Variants

1 paper

NM_018706.7

p.N365Y

c.1093A>T

1 paper

NM_018706.7

p.P373L

c.1118C>T

1 paper

NM_018706.7

p.E375A

c.1124A>C

1 paper

NM_018706.7

p.I386V

c.1156A>G

1 paper

NM_018706.7

p.G387Splc

c.1159+5G>A

1 paper

NM_018706.7

p.V325L

c.973G>C

1 paper

NM_018706.7

p.D323N

c.967G>A

1 paper

NM_018706.7

p.G311D

c.932G>A

2 papers

NM_018706.7

p.R308H

c.923G>A

1 paper

NM_018706.7

p.R308L

c.923G>T

5 papers

NM_018706.7

p.Q305H

c.915G>C

5 papers

NM_018706.7

p.Q305H

c.915G>T