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

3 papers

NM_014423.4

p.Q185L

c.554A>T

Surrounding Variants

1 paper

NM_014423.4

p.R177C

c.529C>T

1 paper

NM_014423.4

p.R196K

c.587G>A

1 paper

NM_014423.4

p.S174C

c.521C>G

1 paper

NM_014423.4

p.S197Y

c.590C>A

1 paper

NM_014423.4

p.H169R

c.506A>G

1 paper

NM_014423.4

p.K166insFs

c.498dupA

1 paper

NM_014423.4

p.G167fs

c.499_500fs

1 paper

NM_014423.4

p.R164Q

c.491G>A

1 paper

NM_014423.4

p.Q208K

c.622C>A

1 paper

NM_014423.4

p.S162G

c.484A>G

1 paper

NM_014423.4

p.N158H

c.472A>C

1 paper

NM_014423.4

p.N157S

c.470A>G