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.E1464G

c.4391A>G

Surrounding Variants

2 papers

NM_001197104.2

p.E1464A

c.4391A>C

1 paper

NM_001197104.2

p.R1465C

c.4393C>T

1 paper

NM_001197104.2

p.N1463S

c.4388A>G

1 paper

NM_001197104.2

p.E1461V

c.4382A>T

1 paper

NM_001197104.2

p.L1467R

c.4400T>G

1 paper

NM_001197104.2

p.L1467_E1472del0

c.4401_4415del15

1 paper

NM_001197104.2

p.Q1470_L1471del2

c.4408_4412del6

1 paper

NM_001197104.2

p.Q1470*

c.4408C>T

4 papers

NM_001197104.2

p.K1457E

c.4369A>G

1 paper

NM_001197104.2

p.H1456Q

c.4368C>A

1 paper

NM_001197104.2

p.H1456Q

c.4368C>G

1 paper

NM_001197104.2

p.E1472K

c.4414G>A