Varaico: Literature-Extracted Genetic Variants

Gene:IRF6
Variant:p.K229fs

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
1 paper
NM_006147.4
p.K229fs
c.685_686fs
Surrounding Variants
3 papers
NM_006147.4
p.I228T
c.683T>C
1 paper
NM_006147.4
p.K229fs
c.685_686fs
1 paper
NM_006147.4
p.K229delFs
c.686delT
3 papers
NM_006147.4
p.F230L
c.688T>C
1 paper
NM_006147.4
p.K229delFs
c.687delC
1 paper
NM_006147.4
p.I228F
c.682A>T
3 papers
NM_006147.4
p.F230L
c.690T>G
3 papers
NM_006147.4
p.F230L
c.690T>A
1 paper
NM_006147.4
p.D227H
c.679G>C
1 paper
NM_006147.4
p.Q231*
c.691C>T
2 papers
NM_006147.4
p.F230delFs
c.690delA
1 paper
NM_006147.4
p.Y232fs
c.694_695fs
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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."