Varaico: Literature-Extracted Genetic Variants

Gene:NUP210L
Variant:p.T468I

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.T468I
c.1403C>T
Surrounding Variants
1 paper
NM_207308.3
p.A473V
c.1418C>T
1 paper
NM_207308.3
p.E458D
c.1374A>T
1 paper
NM_207308.3
p.E458D
c.1374A>C
1 paper
NM_207308.3
p.E538*
c.1612G>T
1 paper
NM_207308.3
p.K540_I541Splc
c.1620+1G>T
1 paper
NM_207308.3
p.K540_I541Splc
c.1620+2T>A
1 paper
NM_207308.3
p.S435F
c.1304C>T
1 paper
NM_207308.3
p.H420Q
c.1260T>A
1 paper
NM_207308.3
p.H420R
c.1259A>G
1 paper
NM_207308.3
p.D382D
c.1146C>T
2 papers
NM_207308.3
p.E372G
c.1115A>G
1 paper
NM_207308.3
p.W369S
c.1106G>C
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