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.D426H

c.1276G>C

Surrounding Variants

1 paper

NM_018706.7

p.R420C

c.1258C>T

1 paper

NM_018706.7

p.G434V

c.1301G>T

1 paper

NM_018706.7

p.R417H

c.1250G>A

2 papers

NM_018706.7

p.Q416*

c.1246C>T

3 papers

NM_018706.7

p.E437*

c.1309G>T

5 papers

NM_018706.7

p.R410*

c.1228C>T

2 papers

NM_018706.7

p.R407C

c.1219C>T

1 paper

NM_018706.7

p.E403_E404insT

c.1207_1211ins3

1 paper

NM_018706.7

p.K388K

c.1164G>A

2 papers

NM_018706.7

p.G387Splc

c.1160-1G>C

1 paper

NM_018706.7

p.G387Splc

c.1160-2A>G

1 paper

NM_018706.7

p.G387Splc

c.1159+5G>A