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.K964N

c.2892A>T

Surrounding Variants

1 paper

NM_001197104.2

p.K964N

c.2892A>C

1 paper

NM_001197104.2

p.G965E

c.2894G>A

1 paper

NM_001197104.2

p.G965A

c.2894G>C

1 paper

NM_001197104.2

p.K963R

c.2888A>G

1 paper

NM_001197104.2

p.G967R

c.2899G>A

1 paper

NM_001197104.2

p.G967R

c.2899G>C

1 paper

NM_001197104.2

p.I960M

c.2880A>G

1 paper

NM_001197104.2

p.L961_I962delFs

c.2881_2884del4

1 paper

NM_001197104.2

p.E970fs

c.2908_2909fs

1 paper

NM_001197104.2

p.E970fs

c.2908_2909fs

1 paper

NM_001197104.2

p.E970G

c.2909A>G

2 papers

NM_001197104.2

p.T972N

c.2915C>A