Varaico: Literature-Extracted Genetic Variants

Gene:IRF2BP2
Variant:p.P563L

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.P563L
c.1688C>T
Surrounding Variants
1 paper
NM_182972.3
p.V562D
c.1685T>A
1 paper
NM_182972.3
p.V562I
c.1684G>A
1 paper
NM_182972.3
p.A565del1
c.1693_1695delGGC
1 paper
NM_182972.3
p.G559insFs
c.1676dupG
1 paper
NM_182972.3
p.G559A
c.1676G>C
2 papers
NM_001077397.1
p.Q552*
c.1654C>T
NM_182972.3
p.Q568*
c.1702C>T
1 paper
NM_182972.3
p.I571fs
c.1711_1712fs
1 paper
NM_182972.3
p.C555S
c.1664G>C
1 paper
NM_182972.3
p.C555S
c.1663T>A
1 paper
NM_182972.3
p.E553fs
c.1657_1658fs
1 paper
NM_182972.3
p.G552R
c.1654G>A
1 paper
NM_182972.3
p.S551I
c.1652G>T
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