Varaico: Literature-Extracted Genetic Variants

Gene:TMCC3

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
1–12 of 44 variants
3 papers
NM_020698.4
p.D90N
c.268G>A
2 papers
NM_020698.4
p.M188I
c.564G>A
2 papers
NM_020698.4
p.G252D
c.755G>A
2 papers
NM_020698.4
p.R330G
c.988A>G
2 papers
NM_020698.4
p.A433V
c.1298C>T
1 paper
NM_020698.4
p.P2L
c.5C>T
1 paper
NM_020698.4
p.T13S
c.37A>T
1 paper
NM_020698.4
p.T13S
c.38C>G
1 paper
NM_020698.4
p.S15S
c.45G>A
1 paper
NM_020698.4
p.Y16D
c.46T>G
1 paper
NM_020698.4
p.R29C
c.85C>T
1 paper
NM_020698.4
p.P38P
c.114C>T
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."