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.S94*

c.281C>A

Surrounding Variants

1 paper

NM_001197104.2

p.S94L

c.281C>T

1 paper

NM_001197104.2

p.S94_S95insFs

c.282_283insCG

1 paper

NM_001197104.2

p.S95A

c.283T>G

1 paper

NM_001197104.2

p.S94_S95delFs

c.280_283del4

1 paper

NM_001197104.2

p.S92L

c.275C>T

1 paper

NM_001197104.2

p.S92_S93insT

c.274_278ins3

1 paper

NM_001197104.2

p.S97fs

c.289_290fs

1 paper

NM_001197104.2

p.S97delFs

c.290_291delCC

3 papers

NM_001197104.2

p.S90*

c.269C>A

1 paper

NM_001197104.2

p.S90fs

c.268_269fs

1 paper

NM_001197104.2

p.S93_S95ins1

c.279_284dup6

1 paper

NM_001197104.2

p.A99P

c.295G>C