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

9 papers

NM_024496.4

p.A708delFs

c.2122delC

Surrounding Variants

4 papers

NM_024496.4

p.A708fs

c.2122_2123fs

7 papers

NM_024496.4

p.A708fs

c.2122_2123fs

1 paper

NM_024496.4

p.S705F

c.2114C>T

1 paper

NM_024496.4

p.P712Fs

c.2135delinsGGTFs

6 papers

NM_024496.4

p.L713fs

c.2137_2138fs

3 papers

NM_024496.4

p.L713delFs

c.2137delG

1 paper

NM_024496.4

p.P712delFs

c.2135_2136delGG

1 paper

NM_024496.4

p.L713fs

c.2137_2138fs

1 paper

NM_024496.4

p.L713delFs

c.2138delA

6 papers

NM_024496.4

p.C714fs

c.2140_2141fs

1 paper

NM_024496.4

p.N701fs

c.2101_2102fs

1 paper

NM_024496.4

p.C715fs

c.2143_2144fs