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.R28S

c.84G>T

Surrounding Variants

1 paper

NM_002025.4

p.R28S

c.84G>C

1 paper

NM_002025.4

p.R28fs

c.82_83fs

1 paper

NM_002025.4

p.K26*

c.76A>T

1 paper

NM_002025.4

p.R32_Q35delFs

c.94_104del11

1 paper

NM_002025.4

p.R28delFs

c.82delA

1 paper

NM_002025.4

p.R32R

c.96G>C

1 paper

NM_002025.4

p.R33W

c.97A>T

3 papers

NM_002025.4

p.R22H

c.65G>A

1 paper

NM_002025.4

p.E36K

c.106G>A

1 paper

NM_002025.4

p.Y18C

c.53A>G

1 paper

NM_002025.4

p.H17Q

c.51C>G

1 paper

NM_002025.4

p.D42_G47del0

c.124_141del18