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.I968T

c.2903T>C

Surrounding Variants

1 paper

NM_002025.4

p.S969del1

c.2905_2906delTCG

1 paper

NM_001170628.1

p.S610S

c.1830G>A

1 paper

NM_002025.4

p.F965S

c.2894T>C

1 paper

NM_002025.4

p.T964N

c.2891C>A

1 paper

NM_002025.4

p.A963V

c.2888C>T

1 paper

NM_002025.4

p.C962Y

c.2885G>A

1 paper

NM_002025.4

p.E958*

c.2872G>T

1 paper

NM_002025.4

p.A944T

c.2830G>A

1 paper

NM_002025.4

p.G935C

c.2803G>T

3 papers

NM_002025.4

p.R927H

c.2780G>A

1 paper

NM_002025.4

p.R927C

c.2779C>T

1 paper

NM_002025.4

p.R906delFs

c.2717delG