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.A570T

c.1708G>A

Surrounding Variants

1 paper

NM_001386135.1

p.A566delFs

c.1696delC

1 paper

NM_001386135.1

p.A561T

c.1681G>A

1 paper

NM_001386135.1

p.A583A

c.1749G>A

1 paper

NM_001386135.1

p.A555A

c.1665C>T

1 paper

NM_001386135.1

p.A555A

c.1665C>G

1 paper

NM_001386135.1

p.A552T

c.1654G>A

1 paper

NM_001386135.1

p.Q547H

c.1641G>C

1 paper

NM_001386135.1

p.E592D

c.1776G>T

1 paper

NM_001386135.1

p.E592D

c.1776G>C

1 paper

NM_001386135.1

p.Q547K

c.1639C>A

1 paper

NM_001386135.1

p.T594fs

c.1780_1781fs

8 papers

NM_001386135.1

p.T594S

c.1780A>T