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

2 papers

NM_014423.4

p.Q500P

c.1499A>C

Surrounding Variants

1 paper

NM_014423.4

p.R507fs

c.1519_1520fs

1 paper

NM_014423.4

p.T516Fs

c.1548delinsTCFs

2 papers

NM_014423.4

p.T518I

c.1553C>T

1 paper

NM_014423.4

p.S519G

c.1555A>G

1 paper

NM_014423.4

p.G520G

c.1560A>T

1 paper

NM_014423.4

p.P529L

c.1586C>T

1 paper

NM_014423.4

p.P467L

c.1400C>T

1 paper

NM_014423.4

p.T535I

c.1604C>T

1 paper

NM_014423.4

p.E465*

c.1393G>T

2 papers

NM_014423.4

p.Q537*

c.1609C>T

1 paper

NM_014423.4

p.Q537fs

c.1609_1610fs

1 paper

NM_014423.4

p.R544C

c.1630C>T