Varaico: Literature-Extracted Genetic Variants

Gene:IRF6
Variant:p.E236*

IRF6

504 papers

RefSeq Summary

This gene encodes a member of the interferon regulatory transcription factor (IRF) family. Family members share a highly-conserved N-terminal helix-turn-helix DNA-binding domain and a less conserved C...

Pfam Domains

IRFaa 9–114UCSCInterferon regulatory factor transcription factor
IRFaa 9–114UCSCInterferon regulatory factor transcription factor
IRF-3aa 223–407UCSCInterferon-regulatory factor 3

Gene Aliases

HGNC Name

interferon regulatory factor 6

HGNC Previous Symbols

VWS; LPS

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
3 papers
NM_006147.4
p.E236*
c.706G>T
Surrounding Variants
2 papers
NM_006147.4
p.Y237*
c.711C>G
2 papers
NM_006147.4
p.Y237*
c.711C>A
1 paper
NM_006147.4
p.G238R
c.712G>C
1 paper
NM_006147.4
p.G238R
c.712G>A
3 papers
NM_006147.4
p.Q231_R233delFs
c.693_697del5
1 paper
NM_006147.4
p.R233H
c.698G>A
2 papers
NM_006147.4
p.R233C
c.697C>T
2 papers
NM_006147.4
p.Y232fs
c.694_695fs
1 paper
NM_006147.4
p.Q239H
c.717G>C
1 paper
NM_006147.4
p.Y232fs
c.694_695fs
1 paper
NM_006147.4
p.Q231*
c.691C>T
2 papers
NM_006147.4
p.F230delFs
c.690delA
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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."