Varaico: Literature-Extracted Genetic Variants

Gene:NUFIP1
Variant:p.S141Y

NUFIP1

72 papers

RefSeq Summary

This gene encodes a nuclear RNA binding protein that contains a C2H2 zinc finger motif and a nuclear localization signal. This protein is associated with the nuclear matrix in perichromatin fibrils an...

Pfam Domains

NUFIP1aa 215–268UCSCFMR1-interacting protein 1 (NUFIP1)

Gene Aliases

HGNC Name

nuclear FMR1 interacting protein 1

HGNC Alias Symbol

Rsa1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_012345.3
p.S141Y
c.422C>A
Surrounding Variants
1 paper
NM_012345.3
p.K139R
c.416A>G
1 paper
NM_012345.3
p.P144Q
c.431C>A
1 paper
NM_012345.3
p.S155N
c.464G>A
1 paper
NM_012345.3
p.Q162R
c.485A>G
1 paper
NM_012345.3
p.F174L
c.520T>C
1 paper
NM_012345.3
p.T197I
c.590C>T
1 paper
NM_012345.3
p.D203A
c.608A>C
1 paper
NM_012345.3
p.H209H
c.627C>T
1 paper
NM_012345.3
p.E210K
c.628G>A
1 paper
NM_012345.3
p.Q214*
c.640C>T
1 paper
NM_012345.3
p.H216delFs
c.647delT
1 paper
NM_012345.3
p.W217*
c.650G>A
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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."