Varaico: Literature-Extracted Genetic Variants

Gene:TMCC1
Variant:p.L375V

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.L375V
c.1123C>G
Surrounding Variants
1 paper
NM_001017395.5
p.N385H
c.1153A>C
1 paper
NM_001017395.5
p.D391del1
c.1171_1173delGTC
2 papers
NM_001017395.5
p.Q397del1
c.1189_1191delTTG
1 paper
NM_001017395.5
p.D399G
c.1196A>G
1 paper
NM_001017395.5
p.G406E
c.1217G>A
1 paper
NM_001017395.5
p.N410S
c.1229A>G
1 paper
NM_001017395.5
p.G432E
c.1295G>A
1 paper
NM_001017395.5
p.G439S
c.1315G>A
1 paper
NM_001017395.5
p.H464Q
c.1392T>G
1 paper
NM_001017395.5
p.H464Q
c.1392T>A
1 paper
NM_001017395.5
p.N285S
c.854A>G
1 paper
NM_001017395.5
p.R470P
c.1409G>C
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