Varaico: Literature-Extracted Genetic Variants

Gene:IRF6
Variant:p.C114Y

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.C114Y
c.341G>A
Surrounding Variants
5 papers
NM_006147.4
p.C114*
c.342T>A
5 papers
NM_006147.4
p.V113L
c.337G>T
6 papers
NM_006147.4
p.V113L
c.337G>C
1 paper
NM_006147.4
p.Q112*
c.334C>T
1 paper
NM_006147.4
p.Q112E
c.334C>G
3 papers
NM_006147.4
p.Y111C
c.332A>G
5 papers
NM_006147.4
p.Y111H
c.331T>C
9 papers
NM_006147.4
p.Q118*
c.352C>T
1 paper
NM_006147.4
p.I110T
c.329T>C
2 papers
NM_006147.4
p.Q118fs
c.352_353fs
4 papers
NM_006147.4
p.I110L
c.328A>T
4 papers
NM_006147.4
p.I110L
c.328A>C
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