Varaico: Literature-Extracted Genetic Variants

Gene:NPIPB5

NPIPB5

48 papers

Pfam Domains

NPIPaa 41–249UCSCNuclear pore complex interacting protein (NPIP)
NPB13-l_MII_rptaa 576–745UCSCNuclear pore complex-interacting protein B13-like, MII repeat
NPB13-l_MII_rptaa 738–876UCSCNuclear pore complex-interacting protein B13-like, MII repeat

Gene Aliases

HGNC Name

nuclear pore complex interacting protein family member B5

HGNC Previous Name

nuclear pore complex interacting protein family, member B5

Papers
RefSeq ID
Protein change
DNA change
1–12 of 65 variants
5 papers
NM_001395849.1
p.A521P
c.1561G>C
5 papers
NM_001395849.1
p.K531N
c.1593G>T
4 papers
NM_001395849.1
p.T532P
c.1594A>C
3 papers
NM_001395849.1
p.P388L
c.1163C>T
3 papers
NM_001395849.1
p.K531N
c.1593G>C
2 papers
NM_001395849.1
p.R517C
c.1549C>T
2 papers
NM_001395849.1
p.F577_P579del0
c.1729_1737del9
2 papers
NM_001395849.1
p.F577V
c.1729T>G
2 papers
NM_001395849.1
p.A1004A
c.3012C>G
1 paper
NM_001395849.1
p.A46S
c.136G>T
1 paper
NM_001395849.1
p.R146_H148delFs
c.438_442del5
1 paper
NM_001395849.1
p.R160_V162delFs
c.480_484del5
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."