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.P39A

c.115C>G

Surrounding Variants

5 papers

NM_006147.4

p.P39S

c.115C>T

1 paper

NM_006147.4

p.I38M

c.114T>G

1 paper

NM_006147.4

p.P39L

c.116C>T

5 papers

NM_006147.4

p.I38S

c.113T>G

6 papers

NM_006147.4

p.I38T

c.113T>C

1 paper

NM_006147.4

p.P39delFs

c.117delG

1 paper

NM_006147.4

p.W40fs

c.118_119fs

3 papers

NM_006147.4

p.W40*

c.119G>A

1 paper

NM_006147.4

p.Q37Q

c.111G>A

3 papers

NM_006147.4

p.W40C

c.120G>T

3 papers

NM_006147.4

p.W40C

c.120G>C

2 papers

NM_006147.4

p.W40*

c.120G>A