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

1 paper

NM_006147.4

p.H46Q

c.138T>G

Surrounding Variants

1 paper

NM_006147.4

p.H46Q

c.138T>A

1 paper

NM_006147.4

p.S47N

c.140G>A

2 papers

NM_006147.4

p.R45fs

c.133_134fs

12 papers

NM_006147.4

p.R45Q

c.134G>A

2 papers

NM_006147.4

p.R45delFs

c.133delG

6 papers

NM_006147.4

p.R45W

c.133C>T

1 paper

NM_006147.4

p.S47delFs

c.141delG

5 papers

NM_006147.4

p.Q49*

c.145C>T

2 papers

NM_006147.4

p.Q50*

c.148C>T

1 paper

NM_006147.4

p.E51K

c.151G>A

5 papers

NM_006147.4

p.E52*

c.154G>T

3 papers

NM_006147.4

p.W40C

c.120G>T