Varaico: Literature-Extracted Genetic Variants

Gene:NUP210
Variant:p.D1276E

NUP210

155 papers

RefSeq Summary

The nuclear pore complex is a massive structure that extends across the nuclear envelope, forming a gateway that regulates the flow of macromolecules between the nucleus and the cytoplasm. Nucleoporin...

Pfam Domains

Ig_NUP210_1staa 25–114UCSCNUP210 Ig-like domain 1
Ig_NUP210_2ndaa 123–233UCSCNUP210 Ig-like domain 2
Ig_NUP210_3rdaa 241–345UCSCNUP210 Ig-like domain 3
Ig_NUP210_4thaa 355–433UCSCNUP210 forth Ig-like domain
Ig_NUP210_5thaa 456–534UCSCNUP210 Ig-like domain 5
Ig_NUP210_6thaa 538–626UCSCNUP210-like, Ig-like domain 6

Gene Aliases

HGNC Name

nucleoporin 210

HGNC Alias Symbols

GP210; POM210; FLJ22389; KIAA0906

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_024923.4
p.D1276E
c.3828T>A
Surrounding Variants
1 paper
NM_024923.4
p.D1276E
c.3828T>G
1 paper
NM_024923.4
p.D1276N
c.3826G>A
1 paper
NM_024923.4
p.L1270V
c.3808C>G
1 paper
NM_024923.4
p.Q1266H
c.3798G>T
1 paper
NM_024923.4
p.Q1266H
c.3798G>C
1 paper
NM_024923.4
p.R1250Q
c.3749G>A
1 paper
NM_024923.4
p.V1243M
c.3727G>A
1 paper
NM_024923.4
p.M1241T
c.3722T>C
1 paper
NM_024923.4
p.H1227Q
c.3681C>G
1 paper
NM_024923.4
p.H1227Q
c.3681C>A
1 paper
NM_024923.4
p.R1225W
c.3673C>T
1 paper
NM_024923.4
p.R1223Q
c.3668G>A
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