Varaico: Literature-Extracted Genetic Variants

Gene:IRF2BPL
Variant:p.P75fs

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
3 papers
NM_024496.4
p.P75fs
c.223_224fs
Surrounding Variants
1 paper
NM_024496.4
p.P75fs
c.223_224fs
2 papers
NM_024496.4
p.P74Fs
c.220_221delinsAFs
1 paper
NM_024496.4
p.P73_P74delFs
c.219_220delGC
2 papers
NM_024496.4
p.P74fs
c.220_221fs
1 paper
NM_024496.4
p.P74S
c.220C>T
1 paper
NM_024496.4
p.P73P
c.219G>C
2 papers
NM_024496.4
p.V78fs
c.232_233fs
1 paper
NM_024496.4
p.S69_P73delFs
c.205_217del13
2 papers
NM_024496.4
p.V78delFs
c.232delC
1 paper
NM_024496.4
p.C63_G71insFs
c.189_211dup23
1 paper
NM_024496.4
p.G71fs
c.211_212fs
1 paper
NM_024496.4
p.V81fs
c.241_242fs
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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."