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.L603V

c.1807C>G

Surrounding Variants

1 paper

NM_024496.4

p.P605L

c.1814C>T

1 paper

NM_024496.4

p.P598fs

c.1792_1793fs

1 paper

NM_024496.4

p.P598delFs

c.1793delG

1 paper

NM_024496.4

p.G595G

c.1785T>G

1 paper

NM_024496.4

p.E614G

c.1841A>G

1 paper

NM_024496.4

p.S615P

c.1843T>C

1 paper

NM_024496.4

p.A616fs

c.1846_1847fs

1 paper

NM_024496.4

p.A616delFs

c.1846delC

1 paper

NM_024496.4

p.A588S

c.1762G>T

1 paper

NM_024496.4

p.P621L

c.1862C>T

1 paper

NM_024496.4

p.A626T

c.1876G>A

1 paper

NM_024496.4

p.A626delFs

c.1878delA