Varaico: Literature-Extracted Genetic Variants

Gene:MTCL1
Variant:p.C800Y

MTCL1

56 papers

Pfam Domains

SOGAaa 501–595UCSCProtein SOGA
SOGAaa 501–595UCSCProtein SOGA
SOGAaa 630–722UCSCProtein SOGA
SOGAaa 630–722UCSCProtein SOGA
SOGA1-2-like_CCaa 1228–1281UCSCSOGA 1/2-like, coiled-coil
SOGA1-2-like_CCaa 1228–1281UCSCSOGA 1/2-like, coiled-coil

Gene Aliases

HGNC Name

microtubule crosslinking factor 1

HGNC Previous Symbols

KIAA0802; CCDC165; SOGA2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001395333.1
p.C800Y
c.2399G>A
Surrounding Variants
1 paper
NM_001395333.1
p.R823Q
c.2468G>A
1 paper
NM_015210.4
p.K407fs
c.1219_1220fs
1 paper
NM_015210.4
p.K407delFs
c.1220delA
1 paper
NM_015210.4
p.A482V
c.1445C>T
1 paper
NM_001395333.1
p.G758V
c.2273G>T
1 paper
NM_001395333.1
p.P853L
c.2558C>T
1 paper
NM_001395333.1
p.L737M
c.2209C>A
1 paper
NM_001395333.1
p.G736W
c.2206G>T
1 paper
NM_001395333.1
p.L906L
c.2718C>A
1 paper
NM_001395333.1
p.V919_S920del2
c.2755_2759del6
1 paper
NM_001395333.1
p.V919_S920del1
c.2756_2758delTGT
1 paper
NM_001395333.1
p.E931*
c.2791G>T
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