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

5 papers

NM_006147.4

p.Q287*

c.859C>T

Surrounding Variants

1 paper

NM_006147.4

p.L289P

c.866T>C

1 paper

NM_006147.4

p.F290S

c.869T>C

1 paper

NM_006147.4

p.T291P

c.871A>C

4 papers

NM_006147.4

p.H281fs

c.841_842fs

1 paper

NM_006147.4

p.H281Q

c.843T>G

1 paper

NM_006147.4

p.H281delFs

c.842delT

1 paper

NM_006147.4

p.H281R

c.842A>G

1 paper

NM_006147.4

p.K293E

c.877A>G

9 papers

NM_006147.4

p.L294P

c.881T>C

1 paper

NM_006147.4

p.L295insFs

c.884_885ins8

1 paper

NM_006147.4

p.L295_D296insFs

c.885_886ins8

1 paper

NM_006147.4

p.G278S

c.832G>A