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.A2delins

c.6delinsA

Surrounding Variants

1 paper

NM_001197104.2

p.H3insFs

c.7dupC

1 paper

NM_001197104.2

p.A2insFs

c.6dupG

1 paper

NM_001197104.2

p.A2V

c.5C>T

1 paper

NM_001197104.2

p.H3Y

c.7C>T

1 paper

NM_001197104.2

p.A2T

c.4G>A

1 paper

NM_001197104.2

p.A2P

c.4G>C

2 papers

NM_001197104.2

p.A2S

c.4G>T

1 paper

NM_001197104.2

p.H3H

c.9C>T

3 papers

NM_001197104.2

p.M1I

c.3G>A

1 paper

NM_001197104.2

p.M1I

c.3G>C

1 paper

NM_001197104.2

p.M1_A2insFs

c.3_4insA

2 papers

NM_001197104.2

p.M1I

c.3G>T