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.R130W

c.388C>T

Surrounding Variants

4 papers

NM_001197104.2

p.R130Q

c.389G>A

2 papers

NM_001197104.2

p.R130L

c.389G>T

1 paper

NM_001197104.2

p.A131T

c.391G>A

1 paper

NM_001197104.2

p.F129V

c.385T>G

1 paper

NM_001197104.2

p.A131G

c.392C>G

2 papers

NM_001197104.2

p.A131V

c.392C>T

1 paper

NM_001197104.2

p.V132_G139insFs

c.395_416dup22

1 paper

NM_001197104.2

p.R127H

c.380G>A

1 paper

NM_001197104.2

p.R127L

c.380G>T

2 papers

NM_001197104.2

p.F133V

c.397T>G

1 paper

NM_001197104.2

p.F133S

c.398T>C

1 paper

NM_001197104.2

p.L126V

c.376C>G