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.Q179E

c.535C>G

Surrounding Variants

1 paper

NM_001386135.1

p.Q179R

c.536A>G

1 paper

NM_001386135.1

p.G177C

c.529G>T

1 paper

NM_001386135.1

p.R182G

c.544C>G

1 paper

NM_001386135.1

p.A183T

c.547G>A

1 paper

NM_001386135.1

p.K184N

c.552A>T

1 paper

NM_001386135.1

p.Q196L

c.587A>T

3 papers

NM_001386135.1

p.P199P

c.597A>T

2 papers

NM_001386135.1

p.S207delFs

c.620_621delGC

1 paper

NM_001386135.1

p.S209C

c.625A>T

1 paper

NM_001386135.1

p.L220L

c.660A>T

1 paper

NM_001386135.1

p.P224fs

c.670_671fs

1 paper

NM_001386135.1

p.P224delFs

c.672delG