Varaico: Literature-Extracted Genetic Variants

Gene:ELF1
Variant:p.T207I

ELF1

105 papers

RefSeq Summary

This gene encodes an E26 transformation-specific related transcription factor. The encoded protein is primarily expressed in lymphoid cells and acts as both an enhancer and a repressor to regulate tra...

Pfam Domains

Elf-1_Naa 2–111UCSCTranscription factor protein N terminal
Etsaa 207–290UCSCEts-domain

Gene Aliases

HGNC Name

E74 like ETS transcription factor 1

HGNC Previous Name

E74-like factor 1 (ets domain transcription factor)

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_172373.4
p.T207I
c.620C>T
Surrounding Variants
1 paper
NM_172373.4
p.G205Splc
c.614-1G>A
2 papers
NM_172373.4
p.P225A
c.673C>G
1 paper
NM_172373.4
p.K239R
c.716A>G
1 paper
NM_172373.4
p.V246V
c.738G>A
1 paper
NM_172373.4
p.S247F
c.740C>T
1 paper
NM_172373.4
p.R248T
c.743G>C
1 paper
NM_172373.4
p.G265R
c.793G>C
1 paper
NM_172373.4
p.G265R
c.793G>A
1 paper
NM_172373.4
p.R269K
c.806G>A
1 paper
NM_172373.4
p.T191M
c.572C>T
1 paper
NM_172373.4
p.P185S
c.553C>T
1 paper
NM_172373.4
p.R184Q
c.551G>A
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