Varaico: Literature-Extracted Genetic Variants

Gene:ECT2L
Variant:p.I50F

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.I50F
c.148A>T
Surrounding Variants
1 paper
NM_001077706.3
p.I50delFs
c.149delT
1 paper
NM_001077706.3
p.A49T
c.145G>A
1 paper
NM_001077706.3
p.F48L
c.144C>A
1 paper
NM_001077706.3
p.F48L
c.144C>G
1 paper
NM_001077706.3
p.F48L
c.142T>C
1 paper
NM_001077706.3
p.L52*
c.155T>A
1 paper
NM_001077706.3
p.L52*
c.155T>G
1 paper
NM_001077706.3
p.T55S
c.163A>T
1 paper
NM_001077706.3
p.R43H
c.128G>A
1 paper
NM_001077706.3
p.R43C
c.127C>T
1 paper
NM_001077706.3
p.N40delFs
c.119_120delAC
1 paper
NM_001077706.3
p.T39A
c.115A>G
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