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.P10delFs

c.28delC

Surrounding Variants

1 paper

NM_001197104.2

p.F9_P10insFs

c.27_28ins17

1 paper

NM_001197104.2

p.F9V

c.25T>G

1 paper

NM_001197104.2

p.P10insFs

c.29_30insA

1 paper

NM_001197104.2

p.P10L

c.29C>T

2 papers

NM_001197104.2

p.A11T

c.31G>A

1 paper

NM_001197104.2

p.W7*

c.21G>A

3 papers

NM_001197104.2

p.R8insFs

c.22dupC

2 papers

NM_001197104.2

p.W7*

c.20G>A

1 paper

NM_001197104.2

p.R12G

c.34C>G

1 paper

NM_001197104.2

p.R6Q

c.17G>A

1 paper

NM_001197104.2

p.R6_W7delFs

c.18_19delGT

3 papers

NM_001197104.2

p.R6W

c.16C>T