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.T2522_V2523del2

c.7564_7568del6

Surrounding Variants

1 paper

NM_001197104.2

p.R2521H

c.7562G>A

1 paper

NM_001197104.2

p.T2522fs

c.7564_7565fs

7 papers

NM_001197104.2

p.V2523_K2524delFs

c.7567_7570del4

1 paper

NM_001197104.2

p.T2522I

c.7565C>T

6 papers

NM_001197104.2

p.V2523fs

c.7567_7568fs

1 paper

NM_001197104.2

p.R2519W

c.7555C>T

2 papers

NM_001197104.2

p.R2519_K2520delFs

c.7556_7559del4

1 paper

NM_001197104.2

p.R2519_K2520del2

c.7555_7559del6

3 papers

NM_001197104.2

p.Q2516*

c.7546C>T

1 paper

NM_001197104.2

p.M2532delFs

c.7594delA

1 paper

NM_001197104.2

p.S2511F

c.7532C>T

1 paper

NM_001197104.2

p.M2532fs

c.7594_7595fs