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.H1456Q

c.4368C>A

Surrounding Variants

1 paper

NM_001197104.2

p.H1456Q

c.4368C>G

1 paper

NM_001197104.2

p.H1456P

c.4367A>C

4 papers

NM_001197104.2

p.K1457E

c.4369A>G

1 paper

NM_001197104.2

p.H1456Y

c.4366C>T

1 paper

NM_001197104.2

p.P1454H

c.4361C>A

1 paper

NM_001197104.2

p.E1453K

c.4357G>A

1 paper

NM_001197104.2

p.E1461V

c.4382A>T

1 paper

NM_001197104.2

p.N1463S

c.4388A>G

2 papers

NM_001197104.2

p.E1464A

c.4391A>C

1 paper

NM_001197104.2

p.E1464G

c.4391A>G

1 paper

NM_001197104.2

p.R1465C

c.4393C>T

3 papers

NM_001197104.2

p.C1448Y

c.4343G>A