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.K245fs

c.733_734fs

Surrounding Variants

1 paper

NM_001166693.3

p.P249L

c.746C>T

1 paper

NM_001166693.3

p.K251I

c.752A>T

1 paper

NM_001166693.3

p.P229A

c.685C>G

1 paper

NM_001166693.3

p.L228R

c.683T>G

1 paper

NM_001166693.3

p.P266L

c.797C>T

1 paper

NM_001166693.3

p.H222D

c.664C>G

1 paper

NM_001166693.3

p.P220H

c.659C>A

1 paper

NM_001166693.3

p.P273L

c.818C>T

1 paper

NM_001166693.3

p.P273P

c.819T>C

2 papers

NM_001166693.3

p.P216A

c.646C>G

1 paper

NM_001166693.3

p.P216S

c.646C>T

1 paper

NM_001166693.3

p.P214P

c.642A>G