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.S2414T

c.7240T>A

Surrounding Variants

1 paper

NM_001197104.2

p.S2415S

c.7245C>T

1 paper

NM_001197104.2

p.S2411T

c.7232G>C

1 paper

NM_001197104.2

p.M2410_S2411delins

c.7230_7231delinsTT

1 paper

NM_001197104.2

p.N2418N

c.7254C>T

1 paper

NM_001197104.2

p.E2419K

c.7255G>A

2 papers

NM_001197104.2

p.E2419*

c.7255G>T

1 paper

NM_001197104.2

p.M2421delFs

c.7261_7262delAT

1 paper

NM_001197104.2

p.S2408_N2412del5

c.7222_7235del15

1 paper

NM_001197104.2

p.M2421fs

c.7261_7262fs

1 paper

NM_001197104.2

p.L2407_S2408del2

c.7219_7223del6

1 paper

NM_001197104.2

p.M2421K

c.7262T>A

1 paper

NM_001197104.2

p.G2422*

c.7264G>T