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

2 papers

NM_024496.4

p.A161_A163ins1

c.483_488dup6

Surrounding Variants

1 paper

NM_024496.4

p.A162_A163ins0

c.486_488dupCGC

1 paper

NM_024496.4

p.A163A

c.489T>C

3 papers

NM_024496.4

p.A164fs

c.490_491fs

1 paper

NM_024496.4

p.A158_A164del0

c.474_491del18

1 paper

NM_024496.4

p.A164ins1

c.491_492insCGC

1 paper

NM_024496.4

p.V165A

c.494T>C

2 papers

NM_024496.4

p.A164del1

c.490_491delCGC

1 paper

NM_024496.4

p.A162T

c.484G>A

2 papers

NM_024496.4

p.A162fs

c.484_485fs

7 papers

NM_024496.4

p.E166*

c.496G>T

1 paper

NM_024496.4

p.E166G

c.497A>G

1 paper

NM_024496.4

p.A164_E166delFs

c.490_496del7