Varaico: Literature-Extracted Genetic Variants

Gene:IRF6
Variant:p.L345P

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
6 papers
NM_006147.4
p.L345P
c.1034T>C
Surrounding Variants
1 paper
NM_006147.4
p.F346L
c.1036T>C
1 paper
NM_006147.4
p.F346L
c.1038T>G
1 paper
NM_006147.4
p.F346L
c.1038T>A
6 papers
NM_006147.4
p.C347F
c.1040G>T
1 paper
NM_006147.4
p.E349*
c.1045G>T
4 papers
NM_006147.4
p.E349V
c.1046A>T
2 papers
NM_006147.4
p.I337_Q340delFs
c.1011_1020del10
1 paper
NM_006147.4
p.T350K
c.1049C>A
2 papers
NM_006147.4
p.F351L
c.1051T>C
1 paper
NM_006147.4
p.F351S
c.1052T>C
4 papers
NM_006147.4
p.R339I
c.1016G>T
2 papers
NM_006147.4
p.F351L
c.1053C>G
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