Varaico: Literature-Extracted Genetic Variants

AFF2

178 papers

RefSeq Summary

This gene encodes a putative transcriptional activator that is a member of the AF4\FMR2 gene family. This gene is associated with the folate-sensitive fragile X E locus on chromosome X. A repeat polym...

Pfam Domains

AF-4aa 18–535UCSCAF-4 proto-oncoprotein N-terminal region

AF4_intaa 801–815UCSCAF4 interaction motif

Gene Aliases

HGNC Name

ALF transcription elongation factor 2

HGNC Previous Symbol

FMR2

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_002025.4

p.K856R

c.2567A>G

Surrounding Variants

1 paper

NM_002025.4

p.P849L

c.2546C>T

1 paper

NM_002025.4

p.P847A

c.2539C>G

4 papers

NM_002025.4

p.R837C

c.2509C>T

1 paper

NM_002025.4

p.D808Y

c.2422G>T

1 paper

NM_002025.4

p.L807I

c.2419C>A

2 papers

NM_002025.4

p.K799E

c.2395A>G

1 paper

NM_002025.4

p.P791H

c.2372C>A

1 paper

NM_002025.4

p.L789M

c.2365C>A

1 paper

NM_002025.4

p.S772N

c.2315G>A

1 paper

NM_002025.4

p.L756L

c.2268C>T

1 paper

NM_002025.4

p.P735L

c.2204C>T

1 paper

NM_002025.4

p.P735ins1

c.2203_2204insGCA