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

20 papers

NM_006147.4

p.R250Q

c.749G>A

Surrounding Variants

1 paper

NM_001206696.2

p.R155delFs

c.463delG

10 papers

NM_006147.4

p.R250*

c.748C>T

4 papers

NM_006147.4

p.R250G

c.748C>G

1 paper

NM_001206696.2

p.R155fs

c.463_464fs

6 papers

NM_006147.4

p.L251P

c.752T>C

1 paper

NM_006147.4

p.C249R

c.745T>C

1 paper

NM_006147.4

p.F252V

c.754T>G

6 papers

NM_006147.4

p.F252L

c.754T>C

4 papers

NM_006147.4

p.G248fs

c.742_743fs

3 papers

NM_006147.4

p.F252S

c.755T>C

1 paper

NM_006147.4

p.F252Y

c.755T>A

1 paper

NM_006147.4

p.G248insFs

c.743_744ins4