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.A293delFs

c.879delT

Surrounding Variants

1 paper

NM_014423.4

p.S291N

c.872G>A

1 paper

NM_014423.4

p.K297R

c.890A>G

1 paper

NM_014423.4

p.Q303E

c.907C>G

1 paper

NM_014423.4

p.P304S

c.910C>T

1 paper

NM_014423.4

p.S277T

c.830G>C

1 paper

NM_014423.4

p.E267*

c.799G>T

1 paper

NM_014423.4

p.G262G

c.786A>G

2 papers

NM_014423.4

p.M260T

c.779T>C

1 paper

NM_014423.4

p.M260fs

c.778_779fs

1 paper

NM_014423.4

p.M260V

c.778A>G

1 paper

NM_014423.4

p.P259delFs

c.777delG

1 paper

NM_014423.4

p.R258P

c.773G>C