Varaico: Literature-Extracted Genetic Variants

Gene:TIMMDC1
Variant:p.S122A

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.S122A
c.364T>G
Surrounding Variants
2 papers
NM_016589.4
p.R129*
c.385C>T
1 paper
NM_016589.4
p.Y134delFs
c.401delA
1 paper
NM_016589.4
p.R137G
c.409C>G
1 paper
NM_016589.4
p.R137H
c.410G>A
1 paper
NM_016589.4
p.V146V
c.438G>C
1 paper
NM_016589.4
p.F149del1
c.445_446delTTC
1 paper
NM_016589.4
p.A164G
c.491C>G
1 paper
NM_016589.4
p.A164A
c.492C>G
1 paper
NM_016589.4
p.Y91F
c.272A>T
1 paper
NM_016589.4
p.V90G
c.269T>G
1 paper
NM_016589.4
p.C78R
c.232T>C
2 papers
NM_016589.4
p.I77T
c.230T>C
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