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

12 papers

NM_006147.4

p.D354N

c.1060G>A

Surrounding Variants

3 papers

NM_006147.4

p.D354Splc

c.1061-2A>G

2 papers

NM_006147.4

p.D354Splc

c.1061-3C>G

1 paper

NM_006147.4

p.D354Splc

c.1061-7T>C

1 paper

NM_006147.4

p.A357T

c.1069G>A

5 papers

NM_006147.4

p.Q359*

c.1075C>T

1 paper

NM_006147.4

p.Q359P

c.1076A>C

3 papers

NM_006147.4

p.G361V

c.1082G>T

3 papers

NM_006147.4

p.G361E

c.1082G>A

1 paper

NM_006147.4

p.I363R

c.1088T>G

1 paper

NM_006147.4

p.I363M

c.1089A>G

2 papers

NM_006147.4

p.I363fs

c.1087_1088fs

2 papers

NM_006147.4

p.I363_E364delFs

c.1088_1091del4