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.G102_V108insFs

c.304_323dup20

Surrounding Variants

3 papers

NM_001197104.2

p.G102R

c.304G>A

2 papers

NM_001197104.2

p.G102R

c.304G>C

1 paper

NM_001197104.2

p.S100S

c.300T>A

1 paper

NM_001197104.2

p.S100C

c.299C>G

1 paper

NM_001197104.2

p.S100F

c.299C>T

1 paper

NM_001197104.2

p.P103Q

c.308C>A

1 paper

NM_001197104.2

p.S100A

c.298T>G

1 paper

NM_001197104.2

p.A99_S100insFs

c.297_298ins4

2 papers

NM_001197104.2

p.A99V

c.296C>T

1 paper

NM_001197104.2

p.A99_S101delFs

c.297_301del5

1 paper

NM_001197104.2

p.A104T

c.310G>A

1 paper

NM_001197104.2

p.A104V

c.311C>T