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

1–12 of 319 variants

8 papers

NM_001386135.1

p.N494S

c.1481A>G

8 papers

NM_001386135.1

p.T594S

c.1780A>T

8 papers

NM_001386135.1

p.T594S

c.1781C>G

6 papers

NM_001386135.1

p.A233T

c.697G>A

6 papers

NM_001386135.1

p.S419del1

c.1255_1257delGCT

4 papers

NM_001386135.1

p.H889Q

c.2667C>G

4 papers

NM_001386135.1

p.H889Q

c.2667C>A

4 papers

NM_001386135.1

p.S914R

c.2742C>A

3 papers

NM_001386135.1

p.E78V

c.233A>T

3 papers

NM_001386135.1

p.P199P

c.597A>T

3 papers

NM_001025108.2

p.A258T

c.772G>A

3 papers

NM_001386135.1

p.S255L

c.764C>T