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.M1T

c.2T>C

Surrounding Variants

1 paper

NM_001166693.3

p.M1I

c.3G>A

1 paper

NM_001166693.3

p.M1I

c.3G>C

1 paper

NM_001166693.3

p.M1_A2insFs

c.3_4insA

1 paper

NM_001166693.3

p.M1I

c.3G>T

1 paper

NM_001166693.3

p.N8I

c.23A>T