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.H1483Y

c.4447C>T

Surrounding Variants

1 paper

NM_001197104.2

p.H1483N

c.4447C>A

1 paper

NM_001197104.2

p.H1483fs

c.4447_4448fs

3 papers

NM_001197104.2

p.C1479W

c.4437C>G

4 papers

NM_001197104.2

p.C1479S

c.4436G>C

1 paper

NM_001197104.2

p.R1487fs

c.4459_4460fs

4 papers

NM_001197104.2

p.C1479S

c.4435T>A

3 papers

NM_001197104.2

p.R1478delFs

c.4433delG

1 paper

NM_001197104.2

p.R1478fs

c.4432_4433fs

2 papers

NM_001197104.2

p.C1476S

c.4427G>C

2 papers

NM_001197104.2

p.C1476S

c.4426T>A

2 papers

NM_001197104.2

p.C1476G

c.4426T>G

2 papers

NM_001197104.2

p.R1478del1

c.4432_4434delCGT