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.E919G

c.2756A>G

Surrounding Variants

1 paper

NM_001197104.2

p.V917A

c.2750T>C

1 paper

NM_001197104.2

p.A922G

c.2765C>G

2 papers

NM_001197104.2

p.S924L

c.2771C>T

2 papers

NM_001197104.2

p.E914fs

c.2740_2741fs

1 paper

NM_001197104.2

p.K913delFs

c.2739delA

1 paper

NM_001197104.2

p.S926P

c.2776T>C

1 paper

NM_001197104.2

p.K929insFs

c.2787dupA

1 paper

NM_001197104.2

p.K929delFs

c.2787delA

1 paper

NM_001197104.2

p.V911I

c.2731G>A

1 paper

NM_001197104.2

p.K928R

c.2783A>G

5 papers

NM_001197104.2

p.G909D

c.2726G>A

1 paper

NM_001197104.2

p.G909C

c.2725G>T