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.S220*

c.659C>G

Surrounding Variants

1 paper

NM_024496.4

p.S220*

c.659C>A

1 paper

NM_024496.4

p.S219_S220del1

c.657_659delGAA

1 paper

NM_024496.4

p.S219_S220del2

c.655_659del6

1 paper

NM_024496.4

p.A222V

c.665C>T

1 paper

NM_024496.4

p.E205_N217del13

c.613_650del39

4 papers

NM_024496.4

p.A221del1

c.661_662delCGC

1 paper

NM_024496.4

p.R213fs

c.637_638fs

1 paper

NM_024496.4

p.E210K

c.628G>A

1 paper

NM_024496.4

p.P208T

c.622C>A

1 paper

NM_024496.4

p.T237T

c.711G>C

1 paper

NM_024496.4

p.L239M

c.715C>A

5 papers

NM_024496.4

p.G194_P200delFs

c.581_599del19