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.S653R

c.1957A>C

Surrounding Variants

1 paper

NM_002025.4

p.S653R

c.1959C>A

1 paper

NM_002025.4

p.S653R

c.1959C>G

3 papers

NM_002025.4

p.S660T

c.1979G>C

1 paper

NM_002025.4

p.H664P

c.1991A>C

1 paper

NM_002025.4

p.T640N

c.1919C>A

1 paper

NM_002025.4

p.P666Q

c.1997C>A

3 papers

NM_002025.4

p.R670H

c.2009G>A

1 paper

NM_002025.4

p.V634fs

c.1900_1901fs

1 paper

NM_002025.4

p.V634delFs

c.1900delG

1 paper

NM_002025.4

p.P631S

c.1891C>T

1 paper

NM_002025.4

p.K629fs

c.1885_1886fs

1 paper

NM_002025.4

p.A679T

c.2035G>A