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.K2443insFs

c.7328_7329ins17

Surrounding Variants

1 paper

NM_001197104.2

p.E2442*

c.7324G>T

1 paper

NM_001197104.2

p.E2442fs

c.7324_7325fs

1 paper

NM_001197104.2

p.F2440Y

c.7319T>A

1 paper

NM_001197104.2

p.T2439I

c.7316C>T

1 paper

NM_001197104.2

p.E2438K

c.7312G>A

1 paper

NM_001197104.2

p.F2449C

c.7346T>G

1 paper

NM_001197104.2

p.K2434T

c.7301A>C

1 paper

NM_001197104.2

p.K2434E

c.7300A>G

1 paper

NM_001197104.2

p.K2434fs

c.7300_7301fs

1 paper

NM_001197104.2

p.K2433N

c.7299A>C

1 paper

NM_001197104.2

p.K2433N

c.7299A>T

1 paper

NM_001197104.2

p.G2453ins3

c.7357_7358ins9