Varaico: Literature-Extracted Genetic Variants

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

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

2 papers

NM_006147.4

p.S122*

c.365C>A

Surrounding Variants

1 paper

NM_006147.4

p.S122L

c.365C>T

1 paper

NM_006147.4

p.I123N

c.368T>A

1 paper

NM_006147.4

p.G121V

c.362G>T

2 papers

NM_006147.4

p.Q120fs

c.358_359fs

6 papers

NM_006147.4

p.Q120*

c.358C>T

2 papers

NM_006147.4

p.Q120K

c.358C>A

1 paper

NM_006147.4

p.N125fs

c.373_374fs

1 paper

NM_006147.4

p.N125K

c.375C>G

1 paper

NM_006147.4

p.N125fs

c.373_374fs

2 papers

NM_006147.4

p.N125insFs

c.373_374dupAA

1 paper

NM_006147.4

p.N125K

c.375C>A

3 papers

NM_006147.4

p.Q118delFs

c.353_354delCT