Varaico: Literature-Extracted Genetic Variants

Gene:EPS15L1
Variant:p.R448C

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
2 papers
NM_001258374.3
p.R448C
c.1342C>T
Surrounding Variants
1 paper
NM_001258374.3
p.E451K
c.1351G>A
1 paper
NM_001258374.3
p.L463M
c.1387C>A
1 paper
NM_001258374.3
p.D465N
c.1393G>A
1 paper
NM_001258374.3
p.R430Q
c.1289G>A
1 paper
NM_001258374.3
p.R430W
c.1288C>T
1 paper
NM_001258374.3
p.T482M
c.1445C>T
1 paper
NM_001258374.3
p.E495K
c.1483G>A
1 paper
NM_001258374.3
p.D496D
c.1488C>T
1 paper
NM_001258374.3
p.S503L
c.1508C>T
1 paper
NM_001258374.3
p.A580T
c.1738G>A
1 paper
NM_001258374.3
p.E584K
c.1750G>A
1 paper
NM_001258374.3
p.P600S
c.1798C>T
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