Varaico: Literature-Extracted Genetic Variants

Gene:ECT2L
Variant:p.L555_E556Splc

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.L555_E556Splc
c.1665+1G>C
Surrounding Variants
1 paper
NM_001077706.3
p.F549fs
c.1645_1646fs
1 paper
NM_001077706.3
p.N548delFs
c.1644delT
1 paper
NM_001077706.3
p.N534Y
c.1600A>T
4 papers
NM_001077706.3
p.E527K
c.1579G>A
1 paper
NM_001077706.3
p.S526_E527Splc
c.1579-1G>C
1 paper
NM_001077706.3
p.S526_E527Splc
c.1579-89G>T
1 paper
NM_001077706.3
p.R557ins1
c.1670_1671insAAT
1 paper
NM_001077706.3
p.I558L
c.1672A>C
1 paper
NM_001077706.3
p.I558L
c.1672A>T
1 paper
NM_001077706.3
p.A568G
c.1703C>G
1 paper
NM_001077706.3
p.V570I
c.1708G>A
2 papers
NM_001077706.3
p.V570A
c.1709T>C
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