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

3 papers

NM_002025.4

p.G547D

c.1640G>A

Surrounding Variants

1 paper

NM_002025.4

p.T551K

c.1652C>A

1 paper

NM_002025.4

p.T551T

c.1653A>G

1 paper

NM_002025.4

p.E554D

c.1662G>C

1 paper

NM_002025.4

p.E554D

c.1662G>T

1 paper

NM_002025.4

p.N535T

c.1604A>C

1 paper

NM_002025.4

p.D531N

c.1591G>A

1 paper

NM_002025.4

p.M566K

c.1697T>A

1 paper

NM_002025.4

p.K527E

c.1579A>G

2 papers

NM_002025.4

p.S524_T525insA

c.1570_1574ins3

1 paper

NM_002025.4

p.P523L

c.1568C>T

1 paper

NM_002025.4

p.T574S

c.1720A>T

1 paper

NM_002025.4

p.S577C

c.1729A>T