Varaico: Literature-Extracted Genetic Variants

AFF3

204 papers

RefSeq Summary

This gene encodes a tissue-restricted nuclear transcriptional activator that is preferentially expressed in lymphoid tissue. Isolation of this protein initially defined a highly conserved LAF4/MLLT2 g...

Pfam Domains

AF-4aa 20–173UCSCAF-4 proto-oncoprotein N-terminal region

AF-4aa 161–473UCSCAF-4 proto-oncoprotein N-terminal region

AF4_intaa 766–779UCSCAF4 interaction motif

AFF4_CHDaa 959–1226UCSCAFF4, C-terminal homology domain

Gene Aliases

HGNC Name

ALF transcription elongation factor 3

HGNC Previous Symbol

LAF4

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

3 papers

NM_001386135.1

p.E78V

c.233A>T

Surrounding Variants

1 paper

NM_001386135.1

p.Y76Y

c.228T>C

1 paper

NM_001386135.1

p.N75Y

c.223A>T

1 paper

NM_001386135.1

p.L83*

c.248T>G

1 paper

NM_001386135.1

p.L83*

c.248T>A

1 paper

NM_001386135.1

p.L83fs

c.247_248fs

1 paper

NM_001386135.1

p.L83delFs

c.248delA

1 paper

NM_001386135.1

p.R68W

c.202C>T

2 papers

NM_001386135.1

p.G94ins1

c.280_281insGGC

1 paper

NM_001386135.1

p.N60fs

c.178_179fs

1 paper

NM_001386135.1

p.T59S

c.176C>G

2 papers

NM_001386135.1

p.T59S

c.175A>T

1 paper

NM_001386135.1

p.Q102Q

c.306G>A