Varaico: Literature-Extracted Genetic Variants

KMT2A

1,639 papers

RefSeq Summary

This gene encodes a transcriptional coactivator that plays an essential role in regulating gene expression during early development and hematopoiesis. The encoded protein contains multiple conserved f...

Pfam Domains

zf-CXXCaa 1147–1194UCSCCXXC zinc finger domain

PHDaa 1482–1530UCSCPHD-finger

PHDaa 1569–1624UCSCPHD-finger

zf-HC5HC2Haa 1900–1978UCSCPHD-like zinc-binding domain

FYRNaa 2018–2074UCSCF/Y-rich N-terminus

FYRCaa 3666–3748UCSCF/Y rich C-terminus

Gene Aliases

HGNC Name

lysine methyltransferase 2A

HGNC Previous Symbol

MLL

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001197104.2

p.G22ins1

c.65_66insATT

Surrounding Variants

1 paper

NM_001197104.2

p.G23_R24delFs

c.68_71del4

1 paper

NM_001197104.2

p.G23insFs

c.68dupG

2 papers

NM_001197104.2

p.G21G

c.63C>G

3 papers

NM_001197104.2

p.G21delFs

c.63delC

1 paper

NM_001197104.2

p.G21insFs

c.61_62dupGG

1 paper

NM_001197104.2

p.G21delFs

c.61_62delGG

1 paper

NM_001197104.2

p.G20D

c.59G>A

1 paper

NM_001197104.2

p.R24P

c.71G>C

1 paper

NM_001197104.2

p.R24L

c.71G>T

1 paper

NM_001197104.2

p.G20insFs

c.58_59ins7

1 paper

NM_001197104.2

p.G26insFs

c.77_78insG

2 papers

NM_001197104.2

p.R25delFs

c.74delG