Varaico: Literature-Extracted Genetic Variants

Gene:IRF2BPL
Variant:p.R188*

IRF2BPL

186 papers

RefSeq Summary

This gene encodes a transcription factor that may play a role in regulating female reproductive function. [provided by RefSeq, Jun 2012].

Pfam Domains

IRF-2BP1_2aa 10–61UCSCInterferon regulatory factor 2-binding protein zinc finger
IRF-2BP1_2_Maa 336–499UCSCIRF-2BP1/2 middle domain
zf-C3HC4_IRF-2BP1_2aa 713–784UCSCIRF-2BP1/2 C3HC4 zinc finger domain

Gene Aliases

HGNC Name

interferon regulatory factor 2 binding protein like

HGNC Previous Symbol

C14orf4

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
18 papers
NM_024496.4
p.R188*
c.562C>T
Surrounding Variants
1 paper
NM_024496.4
p.A187T
c.559G>A
1 paper
NM_024496.4
p.N191D
c.571A>G
1 paper
NM_024496.4
p.S182delFs
c.546delG
1 paper
NM_024496.4
p.G194R
c.580G>C
1 paper
NM_024496.4
p.G194R
c.580G>A
5 papers
NM_024496.4
p.G194fs
c.580_581fs
1 paper
NM_024496.4
p.S182fs
c.544_545fs
1 paper
NM_024496.4
p.G194V
c.581G>T
4 papers
NM_024496.4
p.G195fs
c.583_584fs
7 papers
NM_024496.4
p.G195V
c.584G>T
4 papers
NM_024496.4
p.G195delFs
c.584delC
1 paper
NM_024496.4
p.N197delFs
c.590delT
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."