Varaico: Literature-Extracted Genetic Variants

Gene:ECT2L
Variant:p.S433C

ECT2L

123 papers

Pfam Domains

F-box-likeaa 79–124UCSCF-box-like
DUF4347aa 290–460UCSCDomain of unknown function (DUF4347)
RhoGEFaa 570–752UCSCRhoGEF domain

Gene Aliases

HGNC Name

epithelial cell transforming 2 like

HGNC Previous Symbol

C6orf91

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001077706.3
p.S433C
c.1297A>T
Surrounding Variants
1 paper
NM_001077706.3
p.D434N
c.1300G>A
1 paper
NM_001077706.3
p.G437R
c.1309G>A
1 paper
NM_001077706.3
p.W440G
c.1318T>G
1 paper
NM_001077706.3
p.S452fs
c.1354_1355fs
1 paper
NM_001077706.3
p.Q455R
c.1364A>G
1 paper
NM_001077706.3
p.E465*
c.1393G>T
1 paper
NM_001077706.3
p.K473*
c.1417A>T
1 paper
NM_001077706.3
p.K473K
c.1419G>A
1 paper
NM_001077706.3
p.G488ins1
c.1463_1464insAAT
1 paper
NM_001077706.3
p.R489R
c.1465A>C
1 paper
NM_001077706.3
p.S427fs
c.1279_1280fs
1 paper
NM_001077706.3
p.T415T
c.1245G>A
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