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.H154R

c.461A>G

Surrounding Variants

1 paper

NM_001166693.3

p.A155_Q164delFs

c.465_490del26

1 paper

NM_001166693.3

p.A155A

c.465C>A

1 paper

NM_001166693.3

p.G159S

c.475G>A

1 paper

NM_001166693.3

p.E148K

c.442G>A

1 paper

NM_001166693.3

p.Q144E

c.430C>G

1 paper

NM_001166693.3

p.G177A

c.530G>C

1 paper

NM_001166693.3

p.S117_V118insFs

c.351_352ins4

1 paper

NM_001166693.3

p.T116S

c.346A>T

1 paper

NM_001166693.3

p.D198N

c.592G>A

1 paper

NM_001166693.3

p.S199L

c.596C>T

1 paper

NM_001166693.3

p.P201P

c.603A>G

1 paper

NM_001166693.3

p.K105E

c.313A>G