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

2 papers

NM_002025.4

p.H131Y

c.391C>T

Surrounding Variants

1 paper

NM_002025.4

p.P135Q

c.404C>A

1 paper

NM_002025.4

p.S140_V141del1

c.419_421delCTG

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.K119T

c.356A>C

1 paper

NM_002025.4

p.T147S

c.439A>T

1 paper

NM_002025.4

p.T147S

c.440C>G

2 papers

NM_002025.4

p.L148P

c.443T>C

1 paper

NM_002025.4

p.S155*

c.464C>A

1 paper

NM_002025.4

p.S155*

c.464C>G

1 paper

NM_002025.4

p.Q104H

c.312G>C

1 paper

NM_002025.4

p.Q104H

c.312G>T