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.R282_P284del3

c.844_851del9

Surrounding Variants

1 paper

NM_024496.4

p.R282delFs

c.846delA

1 paper

NM_024496.4

p.P293S

c.877C>T

1 paper

NM_024496.4

p.P296S

c.886C>T

1 paper

NM_024496.4

p.P273Q

c.818C>A

1 paper

NM_024496.4

p.L299F

c.895C>T

1 paper

NM_024496.4

p.G300W

c.898G>T

1 paper

NM_024496.4

p.S311A

c.931T>G

1 paper

NM_024496.4

p.S311S

c.933C>G

1 paper

NM_024496.4

p.S311S

c.933C>A

1 paper

NM_024496.4

p.S313*

c.938C>A

1 paper

NM_024496.4

p.N255K

c.765C>A

1 paper

NM_024496.4

p.P253L

c.758C>T