Varaico: Literature-Extracted Genetic Variants

Gene:EPS15L1
Variant:p.E126K

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.E126K
c.376G>A
Surrounding Variants
1 paper
NM_001258374.3
p.E127K
c.379G>A
1 paper
NM_001258374.3
p.S137fs
c.409_410fs
1 paper
NM_001258374.3
p.S137delFs
c.409delT
1 paper
NM_001258374.3
p.G143C
c.427G>T
1 paper
NM_001258374.3
p.V123M
c.367G>A
1 paper
NM_001258374.3
p.A122S
c.364G>T
1 paper
NM_001258374.3
p.S107C
c.319A>T
1 paper
NM_001258374.3
p.D105N
c.313G>A
1 paper
NM_001258374.3
p.S171T
c.512G>C
1 paper
NM_001258374.3
p.H178P
c.533A>C
1 paper
NM_001258374.3
p.D182Y
c.544G>T
1 paper
NM_001258374.3
p.A60V
c.179C>T
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