Varaico: Literature-Extracted Genetic Variants

Gene:IRF6
Variant:p.L294P

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
9 papers
NM_006147.4
p.L294P
c.881T>C
Surrounding Variants
1 paper
NM_006147.4
p.L295insFs
c.884_885ins8
1 paper
NM_006147.4
p.L295_D296insFs
c.885_886ins8
1 paper
NM_006147.4
p.K293E
c.877A>G
1 paper
NM_006147.4
p.F290_D296delins
c.870_888delinsA
7 papers
NM_006147.4
p.V297I
c.889G>A
1 paper
NM_006147.4
p.T291P
c.871A>C
1 paper
NM_006147.4
p.F290S
c.869T>C
1 paper
NM_006147.4
p.M298I
c.894G>T
1 paper
NM_006147.4
p.L289P
c.866T>C
1 paper
NM_006147.4
p.G301R
c.901G>C
1 paper
NM_006147.4
p.G301E
c.902G>A
5 papers
NM_006147.4
p.Q287*
c.859C>T
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