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.A919T

c.2755G>A

Surrounding Variants

1 paper

NM_001386135.1

p.S921T

c.2762G>C

4 papers

NM_001386135.1

p.S914R

c.2742C>A

1 paper

NM_001386135.1

p.P925R

c.2774C>G

2 papers

NM_001386135.1

p.G904_F908insFs

c.2710_2723dup14

1 paper

NM_001386135.1

p.F908fs

c.2722_2723fs

1 paper

NM_001386135.1

p.T931K

c.2792C>A

1 paper

NM_001386135.1

p.S906N

c.2717G>A

1 paper

NM_001386135.1

p.N905S

c.2714A>G

1 paper

NM_001386135.1

p.E894K

c.2680G>A

5 papers

NM_001025108.2

p.H914Q

c.2742C>G

NM_001386135.1

p.H889Q

c.2667C>G

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