Varaico: Literature-Extracted Genetic Variants

Gene:NUFIP2
Variant:p.Q53L

NUFIP2

60 papers

Pfam Domains

NUFIP2aa 89–688UCSCFMR1-interacting protein 2

Gene Aliases

HGNC Name

nuclear FMR1 interacting protein 2

HGNC Alias Symbols

KIAA1321; MGC117262; PIG1; 182-FIP; FIP-82; 82-FIP; NUFP2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_020772.3
p.Q53L
c.158A>T
Surrounding Variants
1 paper
NM_020772.3
p.H51del1
c.151_152delGTG
1 paper
NM_020772.3
p.H48_H49del1
c.144_146delTGG
1 paper
NM_020772.3
p.G61A
c.182G>C
1 paper
NM_020772.3
p.Q29_P30ins0
c.86_88dupAGC
2 papers
NM_020772.3
p.Q29del1
c.85_86delCTG
1 paper
NM_020772.3
p.P30ins1
c.88_89insAGC
1 paper
NM_020772.3
p.P23P
c.69T>C
1 paper
NM_020772.3
p.P88_K89insAGC
c.262_266ins9
2 papers
NM_020772.3
p.E86_P88del3
c.256_263del9
1 paper
NM_020772.3
p.H14R
c.41A>G
1 paper
NM_020772.3
p.K4E
c.10A>G
1 paper
NM_020772.3
p.E3E
c.9G>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."