Varaico: Literature-Extracted Genetic Variants

Gene:TMCC1
Variant:p.M169I

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.M169I
c.507G>T
Surrounding Variants
1 paper
NM_001017395.5
p.M169I
c.507G>C
1 paper
NM_001017395.5
p.M169I
c.507G>A
4 papers
NM_001017395.5
p.S165G
c.493A>G
1 paper
NM_001017395.5
p.A181ins1
c.542_543insTGC
1 paper
NM_001017395.5
p.A180_A181ins0
c.540_542dupTGC
2 papers
NM_001017395.5
p.A180_A181del1
c.540_542delGCA
2 papers
NM_001017395.5
p.A181del1
c.541_542delTGC
2 papers
NM_001017395.5
p.G133delFs
c.397delC
1 paper
NM_001017395.5
p.K114_K116del3
c.340_347del9
1 paper
NM_001017395.5
p.P112S
c.334C>T
1 paper
NM_001017395.5
p.L83M
c.247C>A
1 paper
NM_001017395.5
p.E78K
c.232G>A
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