Varaico: Literature-Extracted Genetic Variants

Gene:IRF6
Variant:p.S20C

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.S20C
c.58A>T
Surrounding Variants
3 papers
NM_006147.4
p.S20N
c.59G>A
3 papers
NM_006147.4
p.D19G
c.56A>G
1 paper
NM_006147.4
p.D19delFs
c.55delC
1 paper
NM_006147.4
p.D19N
c.55G>A
6 papers
NM_006147.4
p.V18A
c.53T>C
8 papers
NM_006147.4
p.V18M
c.52G>A
2 papers
NM_006147.4
p.L22F
c.64C>T
11 papers
NM_006147.4
p.L22P
c.65T>C
2 papers
NM_006147.4
p.Q17_L22delFs
c.49_64del16
4 papers
NM_006147.4
p.Q17fs
c.49_50fs
1 paper
NM_006147.4
p.Q17insFs
c.50dupA
2 papers
NM_006147.4
p.Q17R
c.50A>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."