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.S1152A

c.3454T>G

Surrounding Variants

1 paper

NM_001197104.2

p.S1152T

c.3454T>A

1 paper

NM_001197104.2

p.S1152P

c.3454T>C

2 papers

NM_001197104.2

p.R1151Q

c.3452G>A

1 paper

NM_001197104.2

p.R1151P

c.3452G>C

1 paper

NM_001197104.2

p.R1153delins

c.3457_3459delinsGCC

1 paper

NM_001197104.2

p.R1151G

c.3451C>G

3 papers

NM_001197104.2

p.R1151*

c.3451C>T

2 papers

NM_001197104.2

p.R1150H

c.3449G>A

1 paper

NM_001197104.2

p.R1154insFs

c.3462dupG

23 papers

NM_001197104.2

p.R1154W

c.3460C>T

2 papers

NM_001197104.2

p.R1150C

c.3448C>T

1 paper

NM_001197104.2

p.R1154delFs

c.3462delG