Varaico: Literature-Extracted Genetic Variants

Gene:ELF4
Variant:p.R179W

ELF4

102 papers

RefSeq Summary

The protein encoded by this gene is a transcriptional activator that binds and activates the promoters of the CSF2, IL3, IL8, and PRF1 genes. The encoded protein is involved in natural killer cell dev...

Pfam Domains

Elf-1_Naa 2–104UCSCTranscription factor protein N terminal
Etsaa 208–291UCSCEts-domain

Gene Aliases

HGNC Name

E74 like ETS transcription factor 4

HGNC Alias Symbol

ELFR

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_001421.4
p.R179W
c.535C>T
Surrounding Variants
6 papers
NM_001421.4
p.R185*
c.553C>T
9 papers
NM_001421.4
p.T187N
c.560C>A
1 paper
NM_001421.4
p.I197T
c.590T>C
2 papers
NM_001421.4
p.L211M
c.631C>A
4 papers
NM_001421.4
p.W212C
c.636G>T
4 papers
NM_001421.4
p.W212C
c.636G>C
1 paper
NM_001421.4
p.E213V
c.638A>T
1 paper
NM_001421.4
p.F214S
c.641T>C
2 papers
NM_001421.4
p.P226L
c.677C>T
1 paper
NM_001421.4
p.I229V
c.685A>G
1 paper
NM_001421.4
p.I229M
c.687C>G
1 paper
NM_001421.4
p.K230fs
c.688_689fs
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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."