Varaico: Literature-Extracted Genetic Variants

Gene:TMCC1
Variant:p.L585F

TMCC1

40 papers

Pfam Domains

Tmemb_cc2aa 230–638UCSCPredicted transmembrane and coiled-coil 2 protein

Gene Aliases

HGNC Name

transmembrane and coiled-coil domain family 1

HGNC Alias Symbol

KIAA0779

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001017395.5
p.L585F
c.1753C>T
Surrounding Variants
2 papers
NM_001017395.5
p.Q570del1
c.1708_1709delCTG
1 paper
NM_001017395.5
p.S605S
c.1815C>T
1 paper
NM_001017395.5
p.R620S
c.1860G>T
1 paper
NM_001017395.5
p.R620S
c.1860G>C
1 paper
NM_001017395.5
p.R546Q
c.1637G>A
1 paper
NM_001017395.5
p.Q540_Y542del3
c.1618_1625del9
1 paper
NM_001017395.5
p.Y542_E543insTGC
c.1624_1628ins9
1 paper
NM_001017395.5
p.I537I
c.1611C>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."