Varaico: Literature-Extracted Genetic Variants

Gene:IRF6
Variant:p.H281Q

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.H281Q
c.843T>G
Surrounding Variants
4 papers
NM_006147.4
p.H281fs
c.841_842fs
1 paper
NM_006147.4
p.H281delFs
c.842delT
1 paper
NM_006147.4
p.H281R
c.842A>G
1 paper
NM_006147.4
p.G278S
c.832G>A
5 papers
NM_006147.4
p.Q287*
c.859C>T
1 paper
NM_006147.4
p.V274A
c.821T>C
1 paper
NM_006147.4
p.V274D
c.821T>A
1 paper
NM_006147.4
p.L289P
c.866T>C
105 papers
NM_006147.4
p.V274I
c.820G>A
3 papers
NM_006147.4
p.Q273H
c.819G>T
3 papers
NM_006147.4
p.Q273H
c.819G>C
5 papers
NM_006147.4
p.Q273R
c.818A>G
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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."