Varaico: Literature-Extracted Genetic Variants

Gene:NUP210L
Variant:p.P613L

NUP210L

118 papers

Pfam Domains

Ig_NUP210_1staa 36–126UCSCNUP210 Ig-like domain 1
Ig_NUP210_2ndaa 135–244UCSCNUP210 Ig-like domain 2
Ig_NUP210_3rdaa 252–356UCSCNUP210 Ig-like domain 3
Ig_NUP210_4thaa 366–444UCSCNUP210 forth Ig-like domain
Ig_NUP210_5thaa 467–545UCSCNUP210 Ig-like domain 5
Ig_NUP210_6thaa 549–637UCSCNUP210-like, Ig-like domain 6

Gene Aliases

HGNC Name

nucleoporin 210 like

HGNC Previous Name

nucleoporin 210kDa like

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_207308.3
p.P613L
c.1838C>T
Surrounding Variants
2 papers
NM_207308.3
p.A622T
c.1864G>A
1 paper
NM_207308.3
p.I568T
c.1703T>C
1 paper
NM_207308.3
p.I566M
c.1698A>G
1 paper
NM_207308.3
p.V674A
c.2021T>C
1 paper
NM_207308.3
p.R688*
c.2062C>T
1 paper
NM_207308.3
p.R688Q
c.2063G>A
1 paper
NM_207308.3
p.F689fs
c.2065_2066fs
1 paper
NM_207308.3
p.L691fs
c.2071_2072fs
1 paper
NM_207308.3
p.L691fs
c.2071_2072fs
1 paper
NM_207308.3
p.L691delFs
c.2072delA
1 paper
NM_207308.3
p.E692*
c.2074G>T
1 paper
NM_207308.3
p.W707G
c.2119T>G
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