Varaico: Literature-Extracted Genetic Variants

Gene:NUFIP1
Variant:p.P324A

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.P324A
c.970C>G
Surrounding Variants
1 paper
NM_012345.3
p.P324T
c.970C>A
1 paper
NM_012345.3
p.V309L
c.925G>C
1 paper
NM_012345.3
p.R307T
c.920G>C
1 paper
NM_012345.3
p.S292C
c.874A>T
1 paper
NM_012345.3
p.K289M
c.866A>T
1 paper
NM_012345.3
p.G276Splc
c.828-1G>A
1 paper
NM_012345.3
p.A251T
c.751G>A
1 paper
NM_012345.3
p.P359L
c.1076C>T
3 papers
NM_012345.3
p.S372S
c.1116A>G
1 paper
NM_012345.3
p.E375delFs
c.1124_1125delCT
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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."