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

2 papers

NM_018706.7

p.Q557_S558Splc

c.1671+1G>A

Surrounding Variants

1 paper

NM_018706.7

p.H555R

c.1664A>G

1 paper

NM_018706.7

p.L551L

c.1651C>T

1 paper

NM_018706.7

p.H550Y

c.1648C>T

1 paper

NM_018706.7

p.M547I

c.1641G>A

1 paper

NM_018706.7

p.M547I

c.1641G>C

1 paper

NM_018706.7

p.M547I

c.1641G>T

1 paper

NM_018706.7

p.S538C

c.1613C>G

1 paper

NM_018706.7

p.G535V

c.1604G>T

1 paper

NM_018706.7

p.L528delFs

c.1582delC

1 paper

NM_018706.7

p.W522delFs

c.1564delT

1 paper

NM_018706.7

p.A517_Q518Fs

c.1550_1552delinsCGAAFs

1 paper

NM_018706.7

p.A517V

c.1550C>T