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.S761P

c.2281T>C

Surrounding Variants

2 papers

NM_014423.4

p.S757T

c.2269T>A

1 paper

NM_014423.4

p.Q755K

c.2263C>A

1 paper

NM_014423.4

p.E751K

c.2251G>A

1 paper

NM_014423.4

p.R750K

c.2249G>A

1 paper

NM_014423.4

p.H748R

c.2243A>G

1 paper

NM_014423.4

p.K742E

c.2224A>G

1 paper

NM_014423.4

p.P737L

c.2210C>T

1 paper

NM_014423.4

p.P736P

c.2208G>T

1 paper

NM_014423.4

p.E735K

c.2203G>A

1 paper

NM_014423.4

p.P730T

c.2188C>A

1 paper

NM_014423.4

p.G728E

c.2183G>A

1 paper

NM_014423.4

p.L723fs

c.2167_2168fs