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.T795S

c.2383A>T

Surrounding Variants

1 paper

NM_001197104.2

p.T795S

c.2384C>G

1 paper

NM_001197104.2

p.T797S

c.2389A>T

1 paper

NM_001197104.2

p.T797fs

c.2389_2390fs

1 paper

NM_001197104.2

p.S790N

c.2369G>A

2 papers

NM_001197104.2

p.T789I

c.2366C>T

1 paper

NM_001197104.2

p.T789A

c.2365A>G

2 papers

NM_001197104.2

p.H801Y

c.2401C>T

1 paper

NM_001197104.2

p.S802_T804del3

c.2404_2411del9

1 paper

NM_001197104.2

p.S802F

c.2405C>T

1 paper

NM_001197104.2

p.L803delFs

c.2407_2408delCT

4 papers

NM_001197104.2

p.L787F

c.2359C>T

1 paper

NM_001197104.2

p.L787delFs

c.2360delT