Varaico: Literature-Extracted Genetic Variants

Gene:IRF2BP2
Variant:p.L18V

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
2 papers
NM_182972.3
p.L18V
c.52C>G
Surrounding Variants
1 paper
NM_182972.3
p.C16W
c.48C>G
1 paper
NM_182972.3
p.C16Y
c.47G>A
1 paper
NM_182972.3
p.P22T
c.64C>A
1 paper
NM_182972.3
p.C19_L21del0
c.55_63del9
1 paper
NM_182972.3
p.R13Q
c.38G>A
1 paper
NM_182972.3
p.R23C
c.67C>T
1 paper
NM_182972.3
p.P25P
c.75C>T
1 paper
NM_182972.3
p.M28L
c.82A>T
1 paper
NM_182972.3
p.M28L
c.82A>C
1 paper
NM_182972.3
p.A4A
c.12G>C
1 paper
NM_182972.3
p.A3E
c.8C>A
1 paper
NM_182972.3
p.A3S
c.7G>T
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