Varaico: Literature-Extracted Genetic Variants

Gene:ECT2L
Variant:p.A605V

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.A605V
c.1814C>T
Surrounding Variants
1 paper
NM_001077706.3
p.A605S
c.1813G>T
1 paper
NM_001077706.3
p.L607del1
c.1819_1820delCTG
1 paper
NM_001077706.3
p.L607M
c.1819C>A
1 paper
NM_001077706.3
p.L607delFs
c.1820_1821delTG
1 paper
NM_001077706.3
p.S602L
c.1805C>T
1 paper
NM_001077706.3
p.S601*
c.1802C>A
1 paper
NM_001077706.3
p.S601*
c.1802C>G
1 paper
NM_001077706.3
p.S601L
c.1802C>T
1 paper
NM_001077706.3
p.L596M
c.1786C>A
1 paper
NM_001077706.3
p.A594T
c.1780G>A
1 paper
NM_001077706.3
p.D590fs
c.1768_1769fs
1 paper
NM_001077706.3
p.V588G
c.1763T>G
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