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.S937_S938del1

c.2810_2812delCAT

Surrounding Variants

1 paper

NM_001197104.2

p.S936Y

c.2807C>A

1 paper

NM_001197104.2

p.S936T

c.2806T>A

1 paper

NM_001197104.2

p.K935R

c.2804A>G

1 paper

NM_001197104.2

p.H939_D940insAAG

c.2815_2819ins9

1 paper

NM_001197104.2

p.H939Y

c.2815C>T

1 paper

NM_001197104.2

p.K934_K935insC

c.2800_2804ins3

1 paper

NM_001197104.2

p.K934delFs

c.2800delA

1 paper

NM_001197104.2

p.R933Q

c.2798G>A

1 paper

NM_001197104.2

p.R933W

c.2797C>T

1 paper

NM_001197104.2

p.G932R

c.2794G>A

1 paper

NM_001197104.2

p.G932R

c.2794G>C

2 papers

NM_001197104.2

p.G942E

c.2825G>A