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.W108*

c.323G>A

Surrounding Variants

1 paper

NM_014423.4

p.W108*

c.324G>A

1 paper

NM_014423.4

p.Q97H

c.291G>T

1 paper

NM_014423.4

p.Q97H

c.291G>C

1 paper

NM_014423.4

p.Q97K

c.289C>A

1 paper

NM_014423.4

p.F94L

c.282C>G

1 paper

NM_014423.4

p.F94L

c.282C>A

1 paper

NM_014423.4

p.F94L

c.280T>C

1 paper

NM_014423.4

p.R123W

c.367C>T

1 paper

NM_014423.4

p.K89T

c.266A>C

1 paper

NM_014423.4

p.E88*

c.262G>T

1 paper

NM_014423.4

p.G130V

c.389G>T

1 paper

NM_014423.4

p.S85S

c.255A>T