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.S2958_G2959ins4

c.8872_8876ins12

Surrounding Variants

1 paper

NM_001197104.2

p.E2960fs

c.8878_8879fs

1 paper

NM_001197104.2

p.E2960_K2961del1

c.8880_8882delGAA

1 paper

NM_001197104.2

p.I2955T

c.8864T>C

1 paper

NM_001197104.2

p.I2955fs

c.8863_8864fs

1 paper

NM_001197104.2

p.K2961N

c.8883G>C

1 paper

NM_001197104.2

p.K2961N

c.8883G>T

1 paper

NM_001197104.2

p.V2954delFs

c.8862delT

1 paper

NM_001197104.2

p.V2963_T2964del2

c.8887_8891del6

1 paper

NM_001197104.2

p.V2963_T2964del1

c.8889_8891delAAC

1 paper

NM_001197104.2

p.K2968_S2969ins4

c.8902_8906ins12

1 paper

NM_001197104.2

p.N2948H

c.8842A>C

1 paper

NM_001197104.2

p.S2969C

c.8906C>G