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.T1046delFs

c.3137delC

Surrounding Variants

2 papers

NM_001197104.2

p.Q1045P

c.3134A>C

3 papers

NM_001197104.2

p.Q1045fs

c.3133_3134fs

2 papers

NM_001197104.2

p.D1047Y

c.3139G>T

1 paper

NM_001197104.2

p.Q1048R

c.3143A>G

4 papers

NM_001197104.2

p.K1044_Q1045delFs

c.3130_3133del4

1 paper

NM_001197104.2

p.S1042N

c.3125G>A

1 paper

NM_001197104.2

p.A1051delins

c.3151_3152delinsCT

1 paper

NM_001197104.2

p.Q1052*

c.3154C>T

1 paper

NM_001197104.2

p.C1035Y

c.3104G>A

1 paper

NM_001197104.2

p.C1035insFs

c.3103_3104insC

1 paper

NM_001197104.2

p.C1035fs

c.3103_3104fs

1 paper

NM_001197104.2

p.L1034delFs

c.3102delC