Varaico: Literature-Extracted Genetic Variants

Gene:N4BP2L2
Variant:p.N137_E138delFs

N4BP2L2

40 papers

Pfam Domains

AAA_33aa 404–537UCSCAAA domain
DUF7818aa 672–715UCSCDomain of unknown function (DUF7818)

Gene Aliases

HGNC Name

NEDD4 binding protein 2 like 2

HGNC Alias Symbols

CG005; PFAAP5

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_014887.3
p.N137_E138delFs
c.411_412delCA
Surrounding Variants
1 paper
NM_014887.3
p.N137fs
c.409_410fs
1 paper
NM_014887.3
p.R136H
c.407G>A
1 paper
NM_014887.3
p.E142K
c.424G>A
1 paper
NM_014887.3
p.P126P
c.378C>A
1 paper
NM_014887.3
p.R152fs
c.454_455fs
1 paper
NM_014887.3
p.R152_G153delFs
c.456_457delCT
1 paper
NM_014887.3
p.Y117C
c.350A>G
1 paper
NM_014887.3
p.F161del1
c.481_482delAAA
1 paper
NM_014887.3
p.D114N
c.340G>A
2 papers
NM_014887.3
p.S99*
c.296C>G
2 papers
NM_014887.3
p.S99*
c.296C>A
1 paper
NM_014887.3
p.L78L
c.234G>A
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