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

5 papers

NM_001025108.2

p.H914Q

c.2742C>G

NM_001386135.1

p.H889Q

c.2667C>G

Surrounding Variants

5 papers

NM_001025108.2

p.H914Q

c.2742C>A

NM_001386135.1

p.H889Q

c.2667C>A

1 paper

NM_001386135.1

p.A886P

c.2656G>C

2 papers

NM_001386135.1

p.A886T

c.2656G>A

1 paper

NM_001386135.1

p.E894K

c.2680G>A

1 paper

NM_001386135.1

p.S884P

c.2650T>C

1 paper

NM_001386135.1

p.R877W

c.2629C>T

1 paper

NM_001386135.1

p.M875I

c.2625G>T

2 papers

NM_001386135.1

p.M875fs

c.2623_2624fs

1 paper

NM_001386135.1

p.M875I

c.2625G>C

1 paper

NM_001386135.1

p.M875I

c.2625G>A

1 paper

NM_001386135.1

p.N905S

c.2714A>G

1 paper

NM_001386135.1

p.S906N

c.2717G>A