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.E522E

c.1566G>A

Surrounding Variants

1 paper

NM_001386135.1

p.I523M

c.1569C>G

2 papers

NM_001386135.1

p.K528R

c.1583A>G

1 paper

NM_001386135.1

p.R532T

c.1595G>C

1 paper

NM_001386135.1

p.A536G

c.1607C>G

1 paper

NM_001386135.1

p.N537Y

c.1609A>T

2 papers

NM_001386135.1

p.K501R

c.1502A>G

1 paper

NM_001386135.1

p.V500A

c.1499T>C

1 paper

NM_001386135.1

p.V545G

c.1634T>G

1 paper

NM_001386135.1

p.Q547K

c.1639C>A

1 paper

NM_001386135.1

p.Q547H

c.1641G>C

1 paper

NM_001386135.1

p.Q495_Y496delFs

c.1483_1486del4

9 papers

NM_001025108.2

p.N519S

c.1556A>G

NM_001386135.1

p.N494S

c.1481A>G