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.K589M

c.1766A>T

Surrounding Variants

1 paper

NM_001166693.3

p.R590R

c.1770G>A

1 paper

NM_001166693.3

p.H586P

c.1757A>C

1 paper

NM_001166693.3

p.E583A

c.1748A>C

1 paper

NM_001166693.3

p.A580G

c.1739C>G

1 paper

NM_001166693.3

p.R579insFs

c.1735dupC

1 paper

NM_001166693.3

p.S574P

c.1720T>C

2 papers

NM_001166693.3

p.P571S

c.1711C>T

1 paper

NM_001166693.3

p.P570delFs

c.1709delC

1 paper

NM_001166693.3

p.K614delFs

c.1842delA

1 paper

NM_001166693.3

p.K614fs

c.1840_1841fs

1 paper

NM_001313960.2

p.K245N

c.735A>C

1 paper

NM_001313960.2

p.K245N

c.735A>T