Varaico: Literature-Extracted Genetic Variants

Gene:ELF4
Variant:p.A138V

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
1 paper
NM_001421.4
p.A138V
c.413C>T
Surrounding Variants
3 papers
NM_001421.4
p.G148fs
c.442_443fs
1 paper
NM_001421.4
p.G148fs
c.442_443fs
2 papers
NM_001421.4
p.G148delFs
c.443delC
1 paper
NM_001421.4
p.D124E
c.372C>G
1 paper
NM_001421.4
p.Q153*
c.457C>T
3 papers
NM_001421.4
p.H156fs
c.466_467fs
4 papers
NM_001421.4
p.G155delFs
c.465delC
1 paper
NM_001421.4
p.H156fs
c.466_467fs
1 paper
NM_001421.4
p.E159G
c.476A>G
1 paper
NM_001421.4
p.E166*
c.496G>T
1 paper
NM_001421.4
p.G172E
c.515G>A
2 papers
NM_001421.4
p.R179W
c.535C>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."