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.A30T

c.88G>A

Surrounding Variants

1 paper

NM_001197104.2

p.A30P

c.88G>C

1 paper

NM_001197104.2

p.A30D

c.89C>A

7 papers

NM_001197104.2

p.A30G

c.89C>G

1 paper

NM_001197104.2

p.G29G

c.87C>T

1 paper

NM_001197104.2

p.G29fs

c.85_86fs

1 paper

NM_001197104.2

p.P31Q

c.92C>A

1 paper

NM_001197104.2

p.P31insFs

c.92_93insT

1 paper

NM_001197104.2

p.P31P

c.93G>A

1 paper

NM_001197104.2

p.P31_R32insFs

c.93_94insA

1 paper

NM_001197104.2

p.R32fs

c.94_95fs

1 paper

NM_001197104.2

p.G28insFs

c.84dupG

1 paper

NM_001197104.2

p.L27L

c.81A>T