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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:MLLT11

MLLT11

11 papers

RefSeq Summary

The gene variously symbolized ALL1, HRX, or MLL located on 11q23 has been demonstrated to be fused with a number of translocation partners in cases of leukemia. t(1;11)(q21;q23) translocations that fu...

Pfam Domains

WRNPLPNIDaa 7–79UCSCPutative WW-binding domain and destruction box

Gene Aliases

HGNC Name

MLLT11 transcription factor 7 cofactor

HGNC Alias Symbol

AF1Q

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

2 papers

chr1:151067480 G>A

NM_006818.4

p.E86K

c.256G>A

Exome: 0.0% (AC=9, hom=0)Genome: 0.0% (AC=1, hom=0)234 overlapping SVs

1 paper

chr1:151067227 G>GA

NM_006818.4

p.M1_R2insFs

c.3_4insA

exact variant not in gnomAD235 overlapping SVs

1 paper

chr1:151067256 C>A

NM_006818.4

p.S11Y

c.32C>A

WRNPLPNID

exact variant not in gnomAD235 overlapping SVs

1 paper

chr1:151067323 A>G

NM_006818.4

p.S33S

c.99A>G

WRNPLPNID

Exome: 0.2% (AC=3203, hom=7)Genome: 0.2% (AC=231, hom=0)234 overlapping SVs

1 paper

chr1:151067457 C>T

NM_006818.4

p.P78L

c.233C>T

WRNPLPNID

exact variant not in gnomAD234 overlapping SVs

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."