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.A115G

c.344C>G

Surrounding Variants

1 paper

NM_001197104.2

p.A115V

c.344C>T

1 paper

NM_001197104.2

p.A115T

c.343G>A

1 paper

NM_001197104.2

p.A115P

c.343G>C

1 paper

NM_001197104.2

p.A115insFs

c.343_344insGG

1 paper

NM_001197104.2

p.Q117_A120del4

c.349_359del12

1 paper

NM_001197104.2

p.D113E

c.339C>A

1 paper

NM_001197104.2

p.Q117E

c.349C>G

2 papers

NM_001197104.2

p.Q117*

c.349C>T

1 paper

NM_001197104.2

p.Q117_V118insFs

c.351_352ins4

1 paper

NM_001197104.2

p.Q117H

c.351G>T

2 papers

NM_001197104.2

p.V118F

c.352G>T

1 paper

NM_001197104.2

p.V118fs

c.352_353fs