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

3 papers

NM_006147.4

p.Y372*

c.1116C>G

Surrounding Variants

3 papers

NM_006147.4

p.Y372*

c.1116C>A

3 papers

NM_006147.4

p.L373S

c.1118T>C

4 papers

NM_006147.4

p.C374R

c.1120T>C

1 paper

NM_006147.4

p.I371T

c.1112T>C

2 papers

NM_006147.4

p.C374Y

c.1121G>A

5 papers

NM_006147.4

p.C374W

c.1122C>G

5 papers

NM_006147.4

p.F375L

c.1123T>C

9 papers

NM_006147.4

p.F375S

c.1124T>C

1 paper

NM_006147.4

p.E370*

c.1108G>T

1 paper

NM_006147.4

p.E370K

c.1108G>A

2 papers

NM_006147.4

p.F369delFs

c.1107delA

2 papers

NM_006147.4

p.F369fs

c.1105_1106fs