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.Q104H

c.312G>C

Surrounding Variants

1 paper

NM_002025.4

p.Q104H

c.312G>T

1 paper

NM_002025.4

p.S101Y

c.302C>A

1 paper

NM_002025.4

p.V95A

c.284T>C

1 paper

NM_002025.4

p.L94_Q104del11

c.280_311del33

1 paper

NM_002025.4

p.N92_H93del1

c.275_277delATC

1 paper

NM_002025.4

p.K119T

c.356A>C

1 paper

NM_002025.4

p.K119N

c.357G>C

1 paper

NM_002025.4

p.K119N

c.357G>T

1 paper

NM_002025.4

p.N87D

c.259A>G

1 paper

NM_002025.4

p.T86T

c.258T>A

1 paper

NM_002025.4

p.L84F

c.252G>C

1 paper

NM_002025.4

p.L84F

c.252G>T