Varaico: Literature-Extracted Genetic Variants

Gene:TIMMDC1
Variant:p.G199Splc

TIMMDC1

59 papers

Pfam Domains

Tim17aa 77–199UCSCTim17/Tim22/Tim23/Pmp24 family

Gene Aliases

HGNC Name

translocase of inner mitochondrial membrane domain containing 1

HGNC Alias Symbol

FLJ22597

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
14 papers
NM_016589.4
p.G199Splc
c.597-1340A>G
Surrounding Variants
1 paper
NM_016589.4
p.V202A
c.605T>C
2 papers
NM_016589.4
p.V217I
c.649G>A
3 papers
NM_016589.4
p.R225*
c.673C>T
1 paper
NM_016589.4
p.R225Q
c.674G>A
4 papers
NM_016589.4
p.G199_T200ins5
c.595_599ins15
1 paper
NM_016589.4
p.P247S
c.739C>T
1 paper
NM_016589.4
p.I266S
c.797T>G
1 paper
NM_016589.4
p.E267K
c.799G>A
1 paper
NM_016589.4
p.L272delFs
c.814delC
1 paper
NM_016589.4
p.L272fs
c.814_815fs
2 papers
NM_016589.4
p.D283delFs
c.847delG
2 papers
NM_016589.4
p.D283fs
c.847_848fs
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