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.T624A

c.1870A>G

Surrounding Variants

1 paper

NM_014423.4

p.S632L

c.1895C>T

1 paper

NM_014423.4

p.S653L

c.1958C>T

1 paper

NM_014423.4

p.P589L

c.1766C>T

1 paper

NM_014423.4

p.E670K

c.2008G>A

1 paper

NM_014423.4

p.A573V

c.1718C>T

1 paper

NM_014423.4

p.K572R

c.1715A>G

1 paper

NM_014423.4

p.D685N

c.2053G>A

1 paper

NM_014423.4

p.R689fs

c.2065_2066fs

2 papers

NM_014423.4

p.F688delFs

c.2064delA

1 paper

NM_014423.4

p.R689Q

c.2066G>A

1 paper

NM_014423.4

p.R689fs

c.2065_2066fs

1 paper

NM_014423.4

p.Q558P

c.1673A>C