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.G635R

c.1903G>C

Surrounding Variants

1 paper

NM_001166693.3

p.G635R

c.1903G>A

1 paper

NM_001166693.3

p.P634Q

c.1901C>A

1 paper

NM_001166693.3

p.G640_D643del4

c.1918_1928del12

1 paper

NM_001166693.3

p.G640G

c.1920C>T

1 paper

NM_001166693.3

p.Q629insFs

c.1886dupA

1 paper

NM_001166693.3

p.Q629fs

c.1885_1886fs

1 paper

NM_001166693.3

p.D643_Q644delFs

c.1929_1930delCC

1 paper

NM_001166693.3

p.D648Y

c.1942G>T

2 papers

NM_001166693.3

p.P650S

c.1948C>T

1 paper

NM_001166693.3

p.S619_R621delins

c.1856_1863delinsGC

1 paper

NM_001166693.3

p.A618V

c.1853C>T

1 paper

NM_001166693.3

p.K617E

c.1849A>G