Varaico: Literature-Extracted Genetic Variants

Gene:IRF6
Variant:p.P246S

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.P246S
c.736C>T
Surrounding Variants
1 paper
NM_006147.4
p.P246fs
c.736_737fs
1 paper
NM_006147.4
p.N245_P246delins
c.735_736delinsTT
1 paper
NM_006147.4
p.P246delFs
c.737delG
1 paper
NM_006147.4
p.G248C
c.742G>T
1 paper
NM_006147.4
p.G248insFs
c.743_744ins4
3 papers
NM_006147.4
p.G248A
c.743G>C
1 paper
NM_001206696.2
p.V148E
c.443T>A
4 papers
NM_006147.4
p.G248fs
c.742_743fs
1 paper
NM_006147.4
p.C249R
c.745T>C
1 paper
NM_006147.4
p.V243M
c.727G>A
1 paper
NM_006147.4
p.Q239_T242del0
c.716_724del9
10 papers
NM_006147.4
p.R250*
c.748C>T
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