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

1–12 of 300 variants

18 papers

NM_024496.4

p.R188*

c.562C>T

11 papers

NM_024496.4

p.Q126*

c.376C>T

11 papers

NM_024496.4

p.Q127*

c.379C>T

11 papers

NM_024496.4

p.Y173*

c.519C>G

10 papers

NM_024496.4

p.E172*

c.514G>T

9 papers

NM_024496.4

p.Y173*

c.519C>A

9 papers

NM_024496.4

p.A708delFs

c.2122delC

8 papers

NM_024496.4

p.Q121*

c.361C>T

8 papers

NM_024496.4

p.P372R

c.1115C>G

7 papers

NM_024496.4

p.Q123_Q125del0

c.369_374del6

7 papers

NM_024496.4

p.E166*

c.496G>T

7 papers

NM_024496.4

p.G195V

c.584G>T