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.P544S

c.1630C>T

Surrounding Variants

1 paper

NM_001166693.3

p.E543Q

c.1627G>C

1 paper

NM_001166693.3

p.R540M

c.1619G>T

1 paper

NM_001166693.3

p.E550Q

c.1648G>C

2 papers

NM_001166693.3

p.T527I

c.1580C>T

1 paper

NM_001166693.3

p.Q561L

c.1682A>T

1 paper

NM_001166693.3

p.P570delFs

c.1709delC

1 paper

NM_001166693.3

p.T517_L526delFs

c.1551_1576del26

2 papers

NM_001166693.3

p.P571S

c.1711C>T

1 paper

NM_001166693.3

p.P515L

c.1544C>T

1 paper

NM_001166693.3

p.S574P

c.1720T>C

1 paper

NM_001166693.3

p.P512L

c.1535C>T

1 paper

NM_001166693.3

p.R579insFs

c.1735dupC