Varaico: Literature-Extracted Genetic Variants

Gene:ECT2L
Variant:p.H763D

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.H763D
c.2287C>G
Surrounding Variants
1 paper
NM_001077706.3
p.D762E
c.2286T>A
1 paper
NM_001077706.3
p.D762E
c.2286T>G
7 papers
NM_001077706.3
p.Q743*
c.2227C>T
1 paper
NM_001077706.3
p.A740V
c.2219C>T
1 paper
NM_001077706.3
p.H731Y
c.2191C>T
3 papers
NM_001077706.3
p.T727I
c.2180C>T
1 paper
NM_001077706.3
p.L725F
c.2173C>T
3 papers
NM_001077706.3
p.A722T
c.2164G>A
1 paper
NM_001077706.3
p.S701Splc
c.2103-12T>G
1 paper
NM_001077706.3
p.M699delFs
c.2095delA
1 paper
NM_001077706.3
p.I695V
c.2083A>G
2 papers
NM_001077706.3
p.R685Q
c.2054G>A
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