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.S3471F

c.10412C>T

Surrounding Variants

2 papers

NM_001197104.2

p.R3473C

c.10417C>T

1 paper

NM_001197104.2

p.D3476V

c.10427A>T

1 paper

NM_001197104.2

p.S3477Y

c.10430C>A

1 paper

NM_001197104.2

p.S3479*

c.10436C>A

1 paper

NM_001197104.2

p.S3479*

c.10436C>G

2 papers

NM_001197104.2

p.L3462F

c.10384C>T

1 paper

NM_001197104.2

p.Q3460H

c.10380G>C

1 paper

NM_001197104.2

p.Q3460H

c.10380G>T

1 paper

NM_001197104.2

p.Q3482R

c.10445A>G

1 paper

NM_001197104.2

p.N3459Y

c.10375A>T

1 paper

NM_001197104.2

p.N3459delFs

c.10376delA

1 paper

NM_001197104.2

p.T3489M

c.10466C>T