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.R2622L

c.7865G>T

Surrounding Variants

1 paper

NM_001197104.2

p.R2622H

c.7865G>A

2 papers

NM_001197104.2

p.R2622C

c.7864C>T

1 paper

NM_001197104.2

p.R2625C

c.7873C>T

2 papers

NM_001197104.2

p.R2625L

c.7874G>T

2 papers

NM_001197104.2

p.R2627_M2630del4

c.7879_7889del12

1 paper

NM_001197104.2

p.R2618fs

c.7852_7853fs

2 papers

NM_001197104.2

p.R2627C

c.7879C>T

2 papers

NM_001197104.2

p.R2627H

c.7880G>A

1 paper

NM_001197104.2

p.R2617fs

c.7849_7850fs

1 paper

NM_001197104.2

p.S2614F

c.7841C>T

1 paper

NM_001197104.2

p.F2632insFs

c.7896dupT

1 paper

NM_001197104.2

p.G2613C

c.7837G>T