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.L436V

c.1306C>G

Surrounding Variants

2 papers

NM_006147.4

p.Q435fs

c.1303_1304fs

2 papers

NM_006147.4

p.Q435_L436delFs

c.1303_1307del5

1 paper

NM_006147.4

p.A434T

c.1300G>A

2 papers

NM_006147.4

p.Q438L

c.1313A>T

2 papers

NM_006147.4

p.D430_V433del0

c.1289_1297del9

1 paper

NM_006147.4

p.Q438fs

c.1312_1313fs

3 papers

NM_006147.4

p.V433F

c.1297G>T

1 paper

NM_006147.4

p.V433I

c.1297G>A

2 papers

NM_006147.4

p.I432_V433delins

c.1296_1297delinsTT

1 paper

NM_006147.4

p.L439P

c.1316T>C

3 papers

NM_006147.4

p.L439delFs

c.1316delA

2 papers

NM_006147.4

p.R441C

c.1321C>T