Varaico: Literature-Extracted Genetic Variants

Gene:ILF2
Variant:p.R269Splc

ILF2

44 papers

RefSeq Summary

The protein encoded by this gene is a transcription factor required for T-cell expression of the interleukin 2 gene. It also binds RNA and is an essential component for encapsidation and protein primi...

Pfam Domains

DZF_Naa 1–178UCSCDZF N-terminal domain
DZF_Caa 181–314UCSCDZF C-terminal domain

Gene Aliases

HGNC Name

interleukin enhancer binding factor 2

HGNC Alias Symbol

NF45

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_004515.4
p.R269Splc
c.806+3A>T
Surrounding Variants
1 paper
NM_004515.4
p.L281L
c.843G>T
1 paper
NM_004515.4
p.Y312C
c.935A>G
1 paper
NM_004515.4
p.K328M
c.983A>T
1 paper
NM_004515.4
p.K328fs
c.982_983fs
1 paper
NM_004515.4
p.K328delFs
c.984delC
1 paper
NM_004515.4
p.Q332*
c.994C>T
1 paper
NM_004515.4
p.W346delins
c.1038delinsGGAGAATACAGAAGAACCACCTCAAGGAGAGGAAGAAGAA
1 paper
NM_004515.4
p.K364R
c.1091A>G
1 paper
NM_004515.4
p.E371G
c.1112A>G
1 paper
NM_004515.4
p.E376K
c.1126G>A
1 paper
NM_004515.4
p.W243C
c.729G>T
1 paper
NM_004515.4
p.T241P
c.721A>C
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