Varaico: Literature-Extracted Genetic Variants

Gene:TMCC1
Variant:p.L52V

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.L52V
c.154T>G
Surrounding Variants
1 paper
NM_001017395.5
p.T38_H39del2
c.112_116del6
1 paper
NM_001017395.5
p.T38_H39del1
c.114_116delTGG
1 paper
NM_001017395.5
p.P67ins1
c.200_201insTGC
1 paper
NM_001017395.5
p.S66_P67ins0
c.198_200dupTCC
1 paper
NM_001017395.5
p.A75T
c.223G>A
1 paper
NM_001017395.5
p.K26M
c.77A>T
1 paper
NM_001017395.5
p.E78K
c.232G>A
1 paper
NM_001017395.5
p.L83M
c.247C>A
1 paper
NM_001017395.5
p.P13delFs
c.38_39delAG
1 paper
NM_001017395.5
p.P112S
c.334C>T
1 paper
NM_001017395.5
p.K114_K116del3
c.340_347del9
2 papers
NM_001017395.5
p.G133delFs
c.397delC
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