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.T898A

c.2692A>G

Surrounding Variants

1 paper

NM_001166693.3

p.R894Q

c.2681G>A

1 paper

NM_001166693.3

p.R891G

c.2671A>G

1 paper

NM_001166693.3

p.S906N

c.2717G>A

3 papers

NM_001166693.3

p.P884L

c.2651C>T

1 paper

NM_001166693.3

p.S881P

c.2641T>C

1 paper

NM_001166693.3

p.D916E

c.2748C>A

1 paper

NM_001166693.3

p.D916E

c.2748C>G

1 paper

NM_001166693.3

p.V925_E926del2

c.2773_2777del6

1 paper

NM_001166693.3

p.V925_E926del1

c.2775_2777delAGA

1 paper

NM_001166693.3

p.E926Q

c.2776G>C

1 paper

NM_001166693.3

p.S867L

c.2600C>T

1 paper

NM_001166693.3

p.S930S

c.2790C>T