Varaico: Literature-Extracted Genetic Variants

Gene:ESAM
Variant:p.L50F

ESAM

75 papers

Pfam Domains

V-setaa 36–150UCSCImmunoglobulin V-set domain
Ig_3aa 155–228UCSCImmunoglobulin domain

Gene Aliases

HGNC Name

endothelial cell adhesion molecule

HGNC Alias Symbol

W117m

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_138961.3
p.L50F
c.148C>T
Surrounding Variants
1 paper
NM_138961.3
p.G46A
c.137G>C
3 papers
NM_138961.3
p.A42G
c.125C>G
1 paper
NM_138961.3
p.Q41H
c.123G>T
1 paper
NM_138961.3
p.V60L
c.178G>C
1 paper
NM_138961.3
p.E59insFs
c.177dupG
1 paper
NM_138961.3
p.R39fs
c.115_116fs
6 papers
NM_138961.3
p.R39delFs
c.115delG
5 papers
NM_138961.3
p.R39fs
c.115_116fs
1 paper
NM_138961.3
p.S63F
c.188C>T
1 paper
NM_138961.3
p.Q30_Q32delFs
c.88_94del7
1 paper
NM_138961.3
p.Q30delFs
c.90delC
1 paper
NM_138961.3
p.Q30delFs
c.89_90delCT
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