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

2 papers

NM_001386135.1

p.Y234*

c.702T>A

Surrounding Variants

2 papers

NM_001386135.1

p.Y234insFs

c.701dupA

2 papers

NM_001386135.1

p.Y234*

c.702T>G

4 papers

NM_001386135.1

p.V235G

c.704T>G

NM_001025108.2

p.V260G

c.779T>G

1 paper

NM_001386135.1

p.A233A

c.699G>C

2 papers

NM_001386135.1

p.Y234_V235delFs

c.701_704del4

2 papers

NM_001386135.1

p.A233delins

c.697_699delinsACC

2 papers

NM_001025108.2

p.A258V

c.773C>T

4 papers

NM_001386135.1

p.A233S

c.697G>T

NM_001025108.2

p.A258S

c.772G>T

1 paper

NM_001025108.2

p.A258P

c.772G>C

9 papers

NM_001025108.2

p.A258T

c.772G>A

NM_001386135.1

p.A233T

c.697G>A

1 paper

NM_001025108.2

p.P256delins

c.767_768delinsGA

3 papers

NM_001025108.2

p.P256L

c.767C>T

NM_001386135.1

p.P231L

c.692C>T