Varaico: Literature-Extracted Genetic Variants

Gene:IRF6
Variant:p.S33C

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.S33C
c.98C>G
Surrounding Variants
1 paper
NM_006147.4
p.S33A
c.97T>G
4 papers
NM_006147.4
p.K34E
c.100A>G
2 papers
NM_006147.4
p.K34insFs
c.100_101insT
1 paper
NM_006147.4
p.G21_S33del13
c.61_98del39
2 papers
NM_006147.4
p.K34fs
c.100_101fs
4 papers
NM_006147.4
p.K34T
c.101A>C
2 papers
NM_006147.4
p.S33_K34delFs
c.99_100delTA
3 papers
NM_006147.4
p.R35C
c.103C>T
4 papers
NM_006147.4
p.R35P
c.104G>C
1 paper
NM_006147.4
p.R31T
c.92G>C
2 papers
NM_006147.4
p.R35H
c.104G>A
3 papers
NM_006147.4
p.F36S
c.107T>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."