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.E444_S445ins1

c.1332_1333insAGC

Surrounding Variants

3 papers

NM_001386135.1

p.E444del1

c.1330_1332delCTC

1 paper

NM_001386135.1

p.S443_E444ins3

c.1329_1330ins9

1 paper

NM_001386135.1

p.H452D

c.1354C>G

1 paper

NM_001386135.1

p.H452fs

c.1354_1355fs

1 paper

NM_001386135.1

p.H452insFs

c.1354dupC

2 papers

NM_001386135.1

p.H452fs

c.1354_1355fs

1 paper

NM_001386135.1

p.S434C

c.1301C>G

1 paper

NM_001386135.1

p.S431I

c.1292G>T

1 paper

NM_001386135.1

p.E429D

c.1287G>T

1 paper

NM_001386135.1

p.E429D

c.1287G>C

1 paper

NM_001386135.1

p.E457_A458Splc

c.1371+6C>T

2 papers

NM_001386135.1

p.S421S

c.1263C>T