Varaico: Literature-Extracted Genetic Variants

Gene:TIMMDC1
Variant:p.C17delFs

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
1 paper
NM_016589.4
p.C17delFs
c.51delC
Surrounding Variants
1 paper
NM_016589.4
p.F19C
c.56T>G
1 paper
NM_016589.4
p.V22_D31delFs
c.64_92del29
1 paper
NM_016589.4
p.R21_D31Fs
c.62_91delinsTFs
1 paper
NM_016589.4
p.S32L
c.95C>T
1 paper
NM_016589.4
p.M1V
c.1A>G
1 paper
NM_016589.4
p.P51L
c.152C>T
1 paper
NM_016589.4
p.E52K
c.154G>A
3 papers
NM_016589.4
p.N76D
c.226A>G
2 papers
NM_016589.4
p.I77T
c.230T>C
1 paper
NM_016589.4
p.C78R
c.232T>C
1 paper
NM_016589.4
p.V90G
c.269T>G
1 paper
NM_016589.4
p.Y91F
c.272A>T
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