Varaico: Literature-Extracted Genetic Variants

Gene:ELF1
Variant:p.R323T

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.R323T
c.968G>C
Surrounding Variants
1 paper
NM_172373.4
p.Q325*
c.973C>T
1 paper
NM_172373.4
p.T320I
c.959C>T
1 paper
NM_172373.4
p.R328W
c.982C>T
1 paper
NM_172373.4
p.S329L
c.986C>T
3 papers
NM_172373.4
p.S314S
c.942G>A
1 paper
NM_172373.4
p.G336W
c.1006G>T
1 paper
NM_172373.4
p.S310F
c.929C>T
1 paper
NM_172373.4
p.S306F
c.917C>T
1 paper
NM_172373.4
p.S305I
c.914G>T
5 papers
NM_172373.4
p.T343S
c.1027A>T
1 paper
NM_172373.4
p.E302K
c.904G>A
1 paper
NM_172373.4
p.K346del1
c.1036_1037delTTT
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