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.K980delFs

c.2939delA

Surrounding Variants

1 paper

NM_001166693.3

p.K980insFs

c.2939dupA

1 paper

NM_001166693.3

p.K980insFs

c.2939_2940ins7

1 paper

NM_001166693.3

p.K980fs

c.2938_2939fs

1 paper

NM_001166693.3

p.K980T

c.2939A>C

2 papers

NM_001166693.3

p.M981fs

c.2941_2942fs

1 paper

NM_001166693.3

p.G960W

c.2878G>T

1 paper

NM_001166693.3

p.S951F

c.2852C>T

1 paper

NM_001166693.3

p.G941R

c.2821G>A

1 paper

NM_001166693.3

p.G941R

c.2821G>C

1 paper

NM_001166693.3

p.S932_S933del1

c.2796_2798delCTC

1 paper

NM_001166693.3

p.S930S

c.2790C>T

1 paper

NM_001166693.3

p.E926Q

c.2776G>C