Varaico: Literature-Extracted Genetic Variants

Gene:EPS15L1
Variant:p.A29delFs

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.A29delFs
c.86delG
Surrounding Variants
1 paper
NM_001258374.3
p.A29fs
c.85_86fs
1 paper
NM_001258374.3
p.Y30C
c.89A>G
1 paper
NM_001258374.3
p.D27N
c.79G>A
3 papers
NM_001258374.3
p.S17L
c.50C>T
1 paper
NM_001258374.3
p.S17T
c.49T>A
1 paper
NM_001258374.3
p.A60V
c.179C>T
1 paper
NM_001258374.3
p.D105N
c.313G>A
1 paper
NM_001258374.3
p.S107C
c.319A>T
1 paper
NM_001258374.3
p.A122S
c.364G>T
1 paper
NM_001258374.3
p.V123M
c.367G>A
1 paper
NM_001258374.3
p.E126K
c.376G>A
1 paper
NM_001258374.3
p.E127K
c.379G>A
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