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.Q297_A298delFs

c.889_892del4

Surrounding Variants

1 paper

NM_002025.4

p.D293N

c.877G>A

1 paper

NM_002025.4

p.P303S

c.907C>T

1 paper

NM_002025.4

p.Y288C

c.863A>G

1 paper

NM_002025.4

p.L305L

c.913C>T

1 paper

NM_002025.4

p.I309T

c.926T>C

3 papers

NM_002025.4

p.Q283*

c.847C>T

1 paper

NM_002025.4

p.M280delFs

c.839delT

1 paper

NM_002025.4

p.S314S

c.942C>T

1 paper

NM_002025.4

p.F315delFs

c.944delT

1 paper

NM_002025.4

p.L318Q

c.953T>A

1 paper

NM_002025.4

p.Y275_K277del3

c.823_830del9

1 paper

NM_002025.4

p.S319L

c.956C>T