Varaico: Literature-Extracted Genetic Variants

Gene:TMCC3
Variant:p.P178L

TMCC3

38 papers

Pfam Domains

Tmemb_cc2aa 64–463UCSCPredicted transmembrane and coiled-coil 2 protein

Gene Aliases

HGNC Name

transmembrane and coiled-coil domain family 3

HGNC Alias Symbol

KIAA1145

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_020698.4
p.P178L
c.533C>T
Surrounding Variants
1 paper
NM_020698.4
p.K173E
c.517A>G
1 paper
NM_020698.4
p.M188I
c.564G>T
1 paper
NM_020698.4
p.M188I
c.564G>C
2 papers
NM_020698.4
p.M188I
c.564G>A
1 paper
NM_020698.4
p.R165C
c.493C>T
1 paper
NM_020698.4
p.Q135*
c.403C>T
1 paper
NM_020698.4
p.P232Q
c.695C>A
1 paper
NM_020698.4
p.Y239Y
c.717C>T
1 paper
NM_020698.4
p.A108V
c.323C>T
2 papers
NM_020698.4
p.G252D
c.755G>A
1 paper
NM_020698.4
p.A103A
c.309A>G
1 paper
NM_020698.4
p.E95V
c.284A>T
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