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.Q186*

c.556C>T

Surrounding Variants

1 paper

NM_002025.4

p.Q188Q

c.564G>A

1 paper

NM_002025.4

p.S189F

c.566C>T

1 paper

NM_002025.4

p.Q182Q

c.546G>A

1 paper

NM_002025.4

p.A191S

c.571G>T

1 paper

NM_002025.4

p.K192R

c.575A>G

1 paper

NM_002025.4

p.P178L

c.533C>T

1 paper

NM_002025.4

p.Q177*

c.529C>T

2 papers

NM_002025.4

p.G176delFs

c.527_528delGT

2 papers

NM_002025.4

p.G176fs

c.526_527fs

1 paper

NM_002025.4

p.F196S

c.587T>C

2 papers

NM_002025.4

p.S175insFs

c.524_525insA

2 papers

NM_002025.4

p.S175fs

c.523_524fs