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.K3222R

c.9665A>G

Surrounding Variants

1 paper

NM_001197104.2

p.R3224_S3227del4

c.9670_9680del12

1 paper

NM_001197104.2

p.L3221delFs

c.9661delC

1 paper

NM_001197104.2

p.R3228delFs

c.9682delC

1 paper

NM_001197104.2

p.R3228fs

c.9682_9683fs

1 paper

NM_001197104.2

p.R3228H

c.9683G>A

1 paper

NM_001197104.2

p.T3231P

c.9691A>C

1 paper

NM_001197104.2

p.T3213K

c.9638C>A

2 papers

NM_001197104.2

p.R3232*

c.9694C>T

2 papers

NM_001197104.2

p.T3212I

c.9635C>T

1 paper

NM_001197104.2

p.K3233Q

c.9697A>C

1 paper

NM_001197104.2

p.S3211I

c.9632G>T

1 paper

NM_001197104.2

p.N3234H

c.9700A>C