Varaico: Literature-Extracted Genetic Variants

Gene:ECT2L
Variant:p.G492Splc

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.G492Splc
c.1475-83G>A
Surrounding Variants
1 paper
NM_001077706.3
p.G492Splc
c.1475-87A>G
1 paper
NM_001077706.3
p.M501T
c.1502T>C
1 paper
NM_001077706.3
p.N503K
c.1509C>A
1 paper
NM_001077706.3
p.N503K
c.1509C>G
1 paper
NM_001077706.3
p.I504V
c.1510A>G
3 papers
NM_001077706.3
p.A511V
c.1532C>T
1 paper
NM_001077706.3
p.A513V
c.1538C>T
1 paper
NM_001077706.3
p.D525N
c.1573G>A
1 paper
NM_001077706.3
p.S526_E527Splc
c.1578+49A>G
1 paper
NM_001077706.3
p.R489R
c.1465A>C
1 paper
NM_001077706.3
p.G488ins1
c.1463_1464insAAT
1 paper
NM_001077706.3
p.K473K
c.1419G>A
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