Varaico: Literature-Extracted Genetic Variants

Gene:IRF2BP2
Variant:p.L188L

IRF2BP2

139 papers

RefSeq Summary

This gene encodes an interferon regulatory factor-2 (IRF2) binding protein that interacts with the C-terminal transcriptional repression domain of IRF2. Alternative splicing results in multiple transc...

Pfam Domains

IRF-2BP1_2aa 12–63UCSCInterferon regulatory factor 2-binding protein zinc finger
IRF-2BP1_2_Maa 275–350UCSCIRF-2BP1/2 middle domain
zf-C3HC4_IRF-2BP1_2aa 504–575UCSCIRF-2BP1/2 C3HC4 zinc finger domain

Gene Aliases

HGNC Name

interferon regulatory factor 2 binding protein 2

HGNC Alias Symbols

LRIR2; IRF-2BP2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_182972.3
p.L188L
c.562C>T
Surrounding Variants
2 papers
NM_182972.3
p.P190S
c.568C>T
1 paper
NM_182972.3
p.M192V
c.574A>G
1 paper
NM_182972.3
p.N193Y
c.577A>T
1 paper
NM_182972.3
p.N193K
c.579C>G
1 paper
NM_182972.3
p.G194A
c.581G>C
3 papers
NM_182972.3
p.G194D
c.581G>A
1 paper
NM_182972.3
p.G194fs
c.580_581fs
2 papers
NM_182972.3
p.S195L
c.584C>T
1 paper
NM_182972.3
p.P198T
c.592C>A
1 paper
NM_182972.3
p.G194_T197delFs
c.581_591del11
2 papers
NM_182972.3
p.L199L
c.597G>A
1 paper
NM_182972.3
p.P200L
c.599C>T
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