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.G238R

c.712G>A

Surrounding Variants

1 paper

NM_006147.4

p.G238R

c.712G>C

2 papers

NM_006147.4

p.Y237*

c.711C>G

2 papers

NM_006147.4

p.Y237*

c.711C>A

1 paper

NM_006147.4

p.Q239H

c.717G>C

3 papers

NM_006147.4

p.E236*

c.706G>T

3 papers

NM_006147.4

p.T240delFs

c.720delG

2 papers

NM_006147.4

p.M241insFs

c.722_723insC

2 papers

NM_006147.4

p.M241fs

c.721_722fs

3 papers

NM_006147.4

p.Q231_R233delFs

c.693_697del5

1 paper

NM_006147.4

p.Q239_T242del0

c.716_724del9

1 paper

NM_006147.4

p.R233H

c.698G>A

1 paper

NM_006147.4

p.V243M

c.727G>A