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.D3574G

c.10721A>G

Surrounding Variants

1 paper

NM_001197104.2

p.T3577M

c.10730C>T

1 paper

NM_001197104.2

p.S3579delFs

c.10736delC

1 paper

NM_001197104.2

p.L3580P

c.10739T>C

1 paper

NM_001197104.2

p.S3567F

c.10700C>T

3 papers

NM_001197104.2

p.S3582*

c.10745C>A

3 papers

NM_001197104.2

p.S3582*

c.10745C>G

1 paper

NM_001197104.2

p.S3566_S3567del1

c.10698_10700delTTC

1 paper

NM_001197104.2

p.T3584insFs

c.10752dupA

1 paper

NM_001197104.2

p.R3564Q

c.10691G>A

1 paper

NM_001197104.2

p.R3564W

c.10690C>T

2 papers

NM_001197104.2

p.G3585fs

c.10753_10754fs

1 paper

NM_001197104.2

p.L3563_R3564del1

c.10689_10691delGCG