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.K415N

c.1245G>C

Surrounding Variants

1 paper

NM_002025.4

p.K415N

c.1245G>T

1 paper

NM_002025.4

p.S421L

c.1262C>T

1 paper

NM_002025.4

p.S421Splc

c.1262+1G>A

1 paper

NM_002025.4

p.S421Splc

c.1262+1G>C

3 papers

NM_002025.4

p.S421Splc

c.1262+1G>T

1 paper

NM_002025.4

p.W405S

c.1214G>C

1 paper

NM_002025.4

p.K404Splc

c.1210+1G>A

1 paper

NM_002025.4

p.Q391*

c.1171C>T

1 paper

NM_002025.4

p.I388_Q391delFs

c.1162_1172del11

1 paper

NM_002025.4

p.S387Y

c.1160C>A

1 paper

NM_002025.4

p.S387F

c.1160C>T

1 paper

NM_002025.4

p.F386L

c.1158T>A