Varaico: Literature-Extracted Genetic Variants

AFF4

147 papers

RefSeq Summary

The protein encoded by this gene belongs to the AF4 family of transcription factors involved in leukemia. It is a component of the positive transcription elongation factor b (P-TEFb) complex. A chromo...

Pfam Domains

AF-4aa 2–479UCSCAF-4 proto-oncoprotein N-terminal region

AF4_intaa 714–728UCSCAF4 interaction motif

AFF4_CHDaa 897–1162UCSCAFF4, C-terminal homology domain

Gene Aliases

HGNC Name

ALF transcription elongation factor 4

HGNC Alias Symbols

AF5Q31; MCEF

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_014423.4

p.F238insFs

c.713dupT

Surrounding Variants

1 paper

NM_014423.4

p.P240fs

c.718_719fs

1 paper

NM_014423.4

p.K245insFs

c.733_734ins4

1 paper

NM_014423.4

p.G231G

c.693G>T

1 paper

NM_014423.4

p.G231V

c.692G>T

1 paper

NM_014423.4

p.M249L

c.745A>T

1 paper

NM_014423.4

p.M249L

c.745A>C

5 papers

NM_014423.4

p.P253L

c.758C>T

2 papers

NM_014423.4

p.P253R

c.758C>G

6 papers

NM_014423.4

p.T254S

c.760A>T

4 papers

NM_014423.4

p.T254A

c.760A>G

6 papers

NM_014423.4

p.T254S

c.761C>G

3 papers

NM_014423.4

p.A255T

c.763G>A