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.S455*

c.1364C>A

Surrounding Variants

1 paper

NM_024496.4

p.G456C

c.1366G>T

1 paper

NM_024496.4

p.L453P

c.1358T>C

1 paper

NM_024496.4

p.K465del1

c.1393_1395delCTT

2 papers

NM_024496.4

p.G467S

c.1399G>A

1 paper

NM_024496.4

p.Q443*

c.1327C>T

2 papers

NM_024496.4

p.S468P

c.1402T>C

2 papers

NM_024496.4

p.L474F

c.1420C>T

1 paper

NM_024496.4

p.P479L

c.1436C>T

2 papers

NM_024496.4

p.S427L

c.1280C>T

1 paper

NM_024496.4

p.K486_E487ins6

c.1456_1460ins18

3 papers

NM_024496.4

p.F485del1

c.1453_1454delGAA

1 paper

NM_024496.4

p.K486R

c.1457A>G