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.Q115_Q117del3

c.343_350del9

Surrounding Variants

1 paper

NM_024496.4

p.Q123_Q124del1

c.369_371delTGC

7 papers

NM_024496.4

p.Q123_Q125del0

c.369_374del6

11 papers

NM_024496.4

p.Q126*

c.376C>T

6 papers

NM_024496.4

p.Q125*

c.373C>T

1 paper

NM_024496.4

p.Q124delFs

c.372delC

4 papers

NM_024496.4

p.Q123_Q125del3

c.367_374del9

11 papers

NM_024496.4

p.Q127*

c.379C>T

1 paper

NM_024496.4

p.Q122_Q124delFs

c.366_370del5

1 paper

NM_024496.4

p.Q124*

c.370C>T

4 papers

NM_024496.4

p.Q123*

c.367C>T

1 paper

NM_024496.4

p.Q122ins6

c.365_366ins18

5 papers

NM_024496.4

p.Q122*

c.364C>T