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.G2234R

c.6700G>C

Surrounding Variants

1 paper

NM_001197104.2

p.G2234R

c.6700G>A

1 paper

NM_001197104.2

p.T2233I

c.6698C>T

1 paper

NM_001197104.2

p.S2241*

c.6722C>A

1 paper

NM_001197104.2

p.S2241*

c.6722C>G

1 paper

NM_001197104.2

p.S2242R

c.6726T>A

1 paper

NM_001197104.2

p.A2243T

c.6727G>A

1 paper

NM_001197104.2

p.Y2222*

c.6666C>A

1 paper

NM_001197104.2

p.Y2222*

c.6666C>G

1 paper

NM_001197104.2

p.V2245insFs

c.6735dupA

1 paper

NM_001197104.2

p.V2246fs

c.6736_6737fs

1 paper

NM_001197104.2

p.Y2222insFs

c.6665dupA

1 paper

NM_001197104.2

p.N2220S

c.6659A>G