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.P498L

c.1493C>T

Surrounding Variants

1 paper

NM_024496.4

p.Q497P

c.1490A>C

1 paper

NM_024496.4

p.P490_P496del7

c.1468_1487del21

1 paper

NM_024496.4

p.P496L

c.1487C>T

1 paper

NM_024496.4

p.P496S

c.1486C>T

2 papers

NM_024496.4

p.L495_P496delins

c.1484_1486delinsCGT

1 paper

NM_024496.4

p.L495P

c.1484T>C

1 paper

NM_024496.4

p.C504S

c.1510T>A

1 paper

NM_024496.4

p.C504S

c.1511G>C

1 paper

NM_024496.4

p.A492V

c.1475C>T

1 paper

NM_024496.4

p.P505H

c.1514C>A

1 paper

NM_024496.4

p.G491_A492insCGC

c.1471_1475ins9

1 paper

NM_024496.4

p.P490S

c.1468C>T