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.G17R

c.49G>C

Surrounding Variants

1 paper

NM_001197104.2

p.G17R

c.49G>A

1 paper

NM_001197104.2

p.G18_G22delFs

c.53_66del14

2 papers

NM_001197104.2

p.G17V

c.50G>T

1 paper

NM_001197104.2

p.T16N

c.47C>A

1 paper

NM_001197104.2

p.G17G

c.51G>A

1 paper

NM_001197104.2

p.G18_G19del2

c.52_56del6

1 paper

NM_001197104.2

p.T16P

c.46A>C

1 paper

NM_001197104.2

p.T16insFs

c.46dupA

1 paper

NM_001197104.2

p.T15_T16insFs

c.45_46insT

1 paper

NM_001197104.2

p.G18V

c.53G>T

1 paper

NM_001197104.2

p.T15I

c.44C>T

1 paper

NM_001197104.2

p.T15fs

c.43_44fs