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

1–12 of 207 variants

8 papers

NM_014423.4

p.R258W

c.772C>T

6 papers

NM_014423.4

p.T254S

c.760A>T

6 papers

NM_014423.4

p.T254S

c.761C>G

5 papers

NM_014423.4

p.P253L

c.758C>T

4 papers

NM_014423.4

p.T254A

c.760A>G

3 papers

NM_014423.4

p.Q185L

c.554A>T

3 papers

NM_014423.4

p.A255T

c.763G>A

3 papers

NM_014423.4

p.A293delFs

c.879delT

3 papers

NM_014423.4

p.T1107A

c.3319A>G

2 papers

NM_014423.4

p.P253R

c.758C>G

2 papers

NM_014423.4

p.M260T

c.779T>C

2 papers

NM_014423.4

p.Q500P

c.1499A>C