Varaico: Literature-Extracted Genetic Variants

Gene:NUFIP1
Variant:p.N393H

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.N393H
c.1177A>C
Surrounding Variants
1 paper
NM_012345.3
p.V389I
c.1165G>A
1 paper
NM_012345.3
p.A410A
c.1230A>T
1 paper
NM_012345.3
p.H450H
c.1350C>T
1 paper
NM_012345.3
p.I470S
c.1409T>G
1 paper
NM_012345.3
p.Q472*
c.1414C>T
1 paper
NM_012345.3
p.R475W
c.1423C>T
1 paper
NM_012345.3
p.D481Y
c.1441G>T
1 paper
NM_012345.3
p.G484_L485insFs
c.1452_1453insA
1 paper
NM_012345.3
p.E375delFs
c.1124_1125delCT
3 papers
NM_012345.3
p.S372S
c.1116A>G
1 paper
NM_012345.3
p.P359L
c.1076C>T
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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."