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

1–12 of 247 variants

4 papers

NM_002025.4

p.R837C

c.2509C>T

4 papers

NM_002025.4

p.I1030L

c.3088A>C

3 papers

NM_002025.4

p.R22H

c.65G>A

3 papers

NM_002025.4

p.A216T

c.646G>A

3 papers

NM_002025.4

p.Q283*

c.847C>T

3 papers

NM_002025.4

p.S421Splc

c.1262+1G>T

3 papers

NM_002025.4

p.G547D

c.1640G>A

3 papers

NM_002025.4

p.S660T

c.1979G>C

3 papers

NM_002025.4

p.R670H

c.2009G>A

3 papers

NM_002025.4

p.D714N

c.2140G>A

3 papers

NM_002025.4

p.R927H

c.2780G>A

3 papers

NM_002025.4

p.Q1077*

c.3229C>T