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.R847T

c.2540G>C

Surrounding Variants

1 paper

NM_001197104.2

p.R847_G848delFs

c.2541_2542delAG

1 paper

NM_001197104.2

p.G848G

c.2544G>C

2 papers

NM_001197104.2

p.E846*

c.2536G>T

1 paper

NM_001197104.2

p.T845insFs

c.2535dupT

1 paper

NM_001197104.2

p.Q844H

c.2532G>C

1 paper

NM_001197104.2

p.Q844H

c.2532G>T

1 paper

NM_001197104.2

p.Q844*

c.2530C>T

1 paper

NM_001197104.2

p.Q844fs

c.2530_2531fs

3 papers

NM_001197104.2

p.K851delFs

c.2552_2553delAA

1 paper

NM_001197104.2

p.Q844delFs

c.2530delC

1 paper

NM_001197104.2

p.S843C

c.2528C>G

1 paper

NM_001197104.2

p.S843F

c.2528C>T