Varaico: Literature-Extracted Genetic Variants

Gene:EPS15L1
Variant:p.S377C

EPS15L1

74 papers

Pfam Domains

EHaa 13–106UCSCEH domain
EHaa 123–218UCSCEH domain
EHaa 272–366UCSCEH domain

Gene Aliases

HGNC Name

epidermal growth factor receptor pathway substrate 15 like 1

HGNC Alias Symbol

eps15R

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001258374.3
p.S377C
c.1130C>G
Surrounding Variants
1 paper
NM_001258374.3
p.G378R
c.1132G>C
1 paper
NM_001258374.3
p.G378R
c.1132G>A
1 paper
NM_001258374.3
p.P369_D370Splc
c.1108-3T>C
1 paper
NM_001258374.3
p.S390N
c.1169G>A
1 paper
NM_001258374.3
p.P356L
c.1067C>T
1 paper
NM_001258374.3
p.P356R
c.1067C>G
1 paper
NM_001258374.3
p.Q352*
c.1054C>T
1 paper
NM_001258374.3
p.R323S
c.969G>T
1 paper
NM_001258374.3
p.R323S
c.969G>C
1 paper
NM_001258374.3
p.V294M
c.880G>A
1 paper
NM_001258374.3
p.D287N
c.859G>A
1 paper
NM_001258374.3
p.S255C
c.764C>G
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