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.Q114_Q115del2

c.340_344del6

Surrounding Variants

1 paper

NM_024496.4

p.Q114_Q116Fs

c.342_348delinsGCAACAGCFs

3 papers

NM_024496.4

p.Q117*

c.349C>T

1 paper

NM_024496.4

p.Q111_Q116delFs

c.333_346del14

1 paper

NM_024496.4

p.Q116*

c.346C>T

1 paper

NM_024496.4

p.Q115delFs

c.345delC

1 paper

NM_024496.4

p.Q117ins1

c.350_351insACA

1 paper

NM_024496.4

p.Q115delFs

c.343_344delTG

1 paper

NM_024496.4

p.Q114_Q115del1

c.342_344delTGT

1 paper

NM_024496.4

p.Q118fs

c.352_353fs

1 paper

NM_024496.4

p.Q115fs

c.343_344fs

1 paper

NM_024496.4

p.Q117_Q118delFs

c.351_352delGC

1 paper

NM_024496.4

p.Q114Q

c.342A>G