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.P2945L

c.8834C>T

Surrounding Variants

1 paper

NM_001197104.2

p.N2948H

c.8842A>C

1 paper

NM_001197104.2

p.S2941R

c.8823T>A

1 paper

NM_001197104.2

p.S2941R

c.8823T>G

1 paper

NM_001197104.2

p.S2941R

c.8821A>C

3 papers

NM_001197104.2

p.R2940Q

c.8819G>A

1 paper

NM_001197104.2

p.R2940P

c.8819G>C

1 paper

NM_001197104.2

p.R2940W

c.8818C>T

1 paper

NM_001197104.2

p.T2938I

c.8813C>T

1 paper

NM_001197104.2

p.V2954delFs

c.8862delT

1 paper

NM_001197104.2

p.I2955fs

c.8863_8864fs

1 paper

NM_001197104.2

p.I2955T

c.8864T>C

6 papers

NM_001197104.2

p.V2936_L2937delFs

c.8806_8809del4