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

1–12 of 241 variants

3 papers

NM_001166693.3

p.H721Y

c.2161C>T

3 papers

NM_001166693.3

p.P884L

c.2651C>T

2 papers

NM_001166693.3

p.D18N

c.52G>A

2 papers

NM_001166693.3

p.P216A

c.646C>G

2 papers

NM_001166693.3

p.K341E

c.1021A>G

2 papers

NM_001166693.3

p.T527I

c.1580C>T

2 papers

NM_001166693.3

p.P571S

c.1711C>T

2 papers

NM_001166693.3

p.P650S

c.1948C>T

2 papers

NM_001166693.3

p.R732H

c.2195G>A

2 papers

NM_001166693.3

p.M981fs

c.2941_2942fs

1 paper

NM_001166693.3

p.M1T

c.2T>C

1 paper

NM_001166693.3

p.M1I

c.3G>A