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

2 papers

NM_001166693.3

p.D18N

c.52G>A

Surrounding Variants

1 paper

NM_001166693.3

p.R23Q

c.68G>A

1 paper

NM_001166693.3

p.R25T

c.74G>C

1 paper

NM_001166693.3

p.R25R

c.75A>G

1 paper

NM_001166693.3

p.K27R

c.80A>G

1 paper

NM_001166693.3

p.K27M

c.80A>T

1 paper

NM_001166693.3

p.R30C

c.88C>T

1 paper

NM_001166693.3

p.Q32*

c.94C>T

1 paper

NM_001166693.3

p.E33Q

c.97G>C

1 paper

NM_001166693.3

p.A34_H35delFs

c.100_103del4

1 paper

NM_001166693.3

p.F41delFs

c.123delT

1 paper

NM_001166693.3

p.F41fs

c.121_122fs

1 paper

NM_001166693.3

p.F41Y

c.122T>A