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

1 paper

NM_001386135.1

p.F112L

c.336T>G

Surrounding Variants

1 paper

NM_001386135.1

p.F112L

c.336T>A

1 paper

NM_001386135.1

p.V113I

c.337G>A

1 paper

NM_001386135.1

p.F112L

c.334T>C

1 paper

NM_001386135.1

p.A114S

c.340G>T

1 paper

NM_001386135.1

p.E110K

c.328G>A

1 paper

NM_001386135.1

p.I108delFs

c.323delA

1 paper

NM_001386135.1

p.K107Fs

c.320delinsACFs

1 paper

NM_001386135.1

p.R117S

c.351A>T

1 paper

NM_001386135.1

p.Q102Q

c.306G>A

2 papers

NM_001386135.1

p.I125T

c.374T>C

1 paper

NM_001386135.1

p.C126S

c.377G>C

2 papers

NM_001386135.1

p.G94ins1

c.280_281insGGC