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.K283delFs

c.848delT

Surrounding Variants

1 paper

NM_001386135.1

p.K283fs

c.847_848fs

1 paper

NM_001386135.1

p.Q289P

c.866A>C

1 paper

NM_001386135.1

p.Q289H

c.867G>T

1 paper

NM_001386135.1

p.Q289H

c.867G>C

1 paper

NM_001386135.1

p.E291K

c.871G>A

1 paper

NM_001386135.1

p.P272P

c.816G>A

1 paper

NM_001386135.1

p.P272L

c.815C>T

1 paper

NM_001386135.1

p.P272S

c.814C>T

1 paper

NM_001386135.1

p.S270insFs

c.810dupC

1 paper

NM_001386135.1

p.V259M

c.775G>A

1 paper

NM_001386135.1

p.T257A

c.769A>G

3 papers

NM_001386135.1

p.S255L

c.764C>T