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.K330_R331del0

c.988_993del6

Surrounding Variants

1 paper

NM_024496.4

p.P332A

c.994C>G

1 paper

NM_024496.4

p.S336*

c.1007C>A

1 paper

NM_024496.4

p.T338I

c.1013C>T

1 paper

NM_024496.4

p.E341_R342ins5

c.1021_1025ins15

1 paper

NM_024496.4

p.V323M

c.967G>A

7 papers

NM_024496.4

p.A321delFs

c.962delG

1 paper

NM_024496.4

p.A321_E322insG

c.961_965ins3

7 papers

NM_024496.4

p.A321fs

c.961_962fs

2 papers

NM_024496.4

p.V320_A321insGC

c.958_962ins6

1 paper

NM_024496.4

p.E343_L344del2

c.1027_1031del6

1 paper

NM_024496.4

p.R342_L344del3

c.1024_1031del9

1 paper

NM_024496.4

p.G333_E346del14

c.997_1037del42