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.V178M

c.532G>A

Surrounding Variants

1 paper

NM_024496.4

p.P176delFs

c.527delG

1 paper

NM_024496.4

p.S182fs

c.544_545fs

11 papers

NM_024496.4

p.Y173*

c.519C>G

9 papers

NM_024496.4

p.Y173*

c.519C>A

1 paper

NM_024496.4

p.S182delFs

c.546delG

10 papers

NM_024496.4

p.E172*

c.514G>T

1 paper

NM_024496.4

p.R170H

c.509G>A

1 paper

NM_024496.4

p.R170delFs

c.508delG

1 paper

NM_024496.4

p.A187T

c.559G>A

1 paper

NM_024496.4

p.A158_R168delFs

c.474_504del31

1 paper

NM_024496.4

p.A157_R168delFs

c.471_504del34

18 papers

NM_024496.4

p.R188*

c.562C>T