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

4 papers

NM_002025.4

p.I1030L

c.3088A>C

Surrounding Variants

1 paper

NM_002025.4

p.T1029P

c.3085A>C

1 paper

NM_002025.4

p.S1037I

c.3110G>T

2 papers

NM_002025.4

p.T1021I

c.3062C>T

1 paper

NM_002025.4

p.H1039N

c.3115C>A

1 paper

NM_002025.4

p.T1043M

c.3128C>T

1 paper

NM_002025.4

p.T1007K

c.3020C>A

1 paper

NM_002025.4

p.T999N

c.2996C>A

1 paper

NM_001170628.1

p.S709W

c.2126C>G

1 paper

NM_002025.4

p.S1068L

c.3203C>T

1 paper

NM_002025.4

p.A992_V996del5

c.2974_2987del15

1 paper

NM_002025.4

p.S1068Splc

c.3203+1G>A

1 paper

NM_002025.4

p.I984fs

c.2950_2951fs