Varaico: Literature-Extracted Genetic Variants

AFF1

220 papers

RefSeq Summary

This gene encodes a member of the AF4/ lymphoid nuclear protein related to the Fragile X E syndrome (FRAXE) family of proteins, which have been implicated in human childhood lymphoblastic leukemia, fr...

Pfam Domains

AF-4aa 8–520UCSCAF-4 proto-oncoprotein N-terminal region

AF4_intaa 761–775UCSCAF4 interaction motif

AFF4_CHDaa 948–1210UCSCAFF4, C-terminal homology domain

Gene Aliases

HGNC Name

ALF transcription elongation factor 1

HGNC Previous Symbols

PBM1; MLLT2

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001166693.3

p.P747L

c.2240C>T

Surrounding Variants

1 paper

NM_001166693.3

p.P747T

c.2239C>A

1 paper

NM_001166693.3

p.R742G

c.2224C>G

1 paper

NM_001166693.3

p.S757*

c.2270C>A

1 paper

NM_001166693.3

p.S757*

c.2270C>G

1 paper

NM_001166693.3

p.P758S

c.2272C>T

1 paper

NM_001166693.3

p.P758Q

c.2273C>A

1 paper

NM_001166693.3

p.Q733K

c.2197C>A

2 papers

NM_001166693.3

p.R732H

c.2195G>A

1 paper

NM_001166693.3

p.P765S

c.2293C>T

1 paper

NM_001166693.3

p.P765Q

c.2294C>A

1 paper

NM_001166693.3

p.G725S

c.2173G>A

1 paper

NM_001166693.3

p.V770M

c.2308G>A