Varaico: Literature-Extracted Genetic Variants

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

1 paper

NM_024496.4

p.Q111*

c.331C>T

Surrounding Variants

1 paper

NM_024496.4

p.Q112fs

c.334_335fs

1 paper

NM_024496.4

p.Q103_Q112del0

c.309_335del27

1 paper

NM_024496.4

p.Q109*

c.325C>T

1 paper

NM_024496.4

p.A95_Q108delFs

c.285_322del38

2 papers

NM_024496.4

p.Q108fs

c.322_323fs

1 paper

NM_024496.4

p.Q107_Q108insFs

c.321_322insG

1 paper

NM_024496.4

p.Q114insFs

c.341_342ins5

1 paper

NM_024496.4

p.Q114Q

c.342A>G

2 papers

NM_024496.4

p.Q107insFs

c.320_321insGC

1 paper

NM_024496.4

p.Q114fs

c.340_341fs

1 paper

NM_024496.4

p.Q115fs

c.343_344fs

1 paper

NM_024496.4

p.Q115delFs

c.343_344delTG