Varaico: Literature-Extracted Genetic Variants

Gene:IRF6
Variant:p.R400W

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
18 papers
NM_006147.4
p.R400W
c.1198C>T
Surrounding Variants
1 paper
NM_006147.4
p.A399fs
c.1195_1196fs
2 papers
NM_006147.4
p.R400P
c.1199G>C
12 papers
NM_006147.4
p.R400Q
c.1199G>A
1 paper
NM_006147.4
p.A399delFs
c.1195delC
5 papers
NM_006147.4
p.V397A
c.1190T>C
3 papers
NM_006147.4
p.V397E
c.1190T>A
5 papers
NM_006147.4
p.Y403*
c.1209C>G
4 papers
NM_006147.4
p.Y403*
c.1209C>A
7 papers
NM_006147.4
p.E404K
c.1210G>A
11 papers
NM_006147.4
p.P396S
c.1186C>T
1 paper
NM_006147.4
p.E404G
c.1211A>G
4 papers
NM_006147.4
p.M405T
c.1214T>C
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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."