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.P249_K250delFs

c.747_748delTA

Surrounding Variants

1 paper

NM_001386135.1

p.P249fs

c.745_746fs

1 paper

NM_001386135.1

p.S254P

c.760T>C

3 papers

NM_001386135.1

p.S255L

c.764C>T

1 paper

NM_001386135.1

p.A244V

c.731C>T

1 paper

NM_001386135.1

p.T257A

c.769A>G

1 paper

NM_001386135.1

p.Q243L

c.728A>T

1 paper

NM_001386135.1

p.Q243*

c.727C>T

1 paper

NM_001386135.1

p.D242V

c.725A>T

1 paper

NM_001386135.1

p.V259M

c.775G>A

2 papers

NM_001386135.1

p.Y234_G240delFs

c.700_719del20

1 paper

NM_001386135.1

p.D239D

c.717C>T

2 papers

NM_001386135.1

p.M238T

c.713T>C