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.G43R

c.127G>A

Surrounding Variants

1 paper

NM_001197104.2

p.G43R

c.127G>C

1 paper

NM_001197104.2

p.G43delFs

c.129delG

2 papers

NM_001197104.2

p.P44insFs

c.132dupC

1 paper

NM_001197104.2

p.P45delFs

c.134delC

1 paper

NM_001197104.2

p.P42S

c.124C>T

1 paper

NM_001197104.2

p.P41H

c.122C>A

1 paper

NM_001197104.2

p.P45_V46insT

c.133_137ins3

1 paper

NM_001197104.2

p.P41A

c.121C>G

1 paper

NM_001197104.2

p.P41S

c.121C>T

1 paper

NM_001197104.2

p.P41fs

c.121_122fs

1 paper

NM_001197104.2

p.P45Q

c.134C>A

1 paper

NM_001197104.2

p.L40_P41insFs

c.120_121insA