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.K866R

c.2597A>G

Surrounding Variants

1 paper

NM_001197104.2

p.S867N

c.2600G>A

2 papers

NM_001197104.2

p.V868M

c.2602G>A

1 paper

NM_001197104.2

p.E869*

c.2605G>T

1 paper

NM_001197104.2

p.K870_R880del11

c.2608_2639del33

2 papers

NM_001197104.2

p.R862*

c.2584C>T

1 paper

NM_001197104.2

p.K872_S873insC

c.2614_2618ins3

1 paper

NM_001197104.2

p.K872Q

c.2614A>C

1 paper

NM_001197104.2

p.K860fs

c.2578_2579fs

1 paper

NM_001197104.2

p.S873R

c.2617A>C

3 papers

NM_001197104.2

p.S873N

c.2618G>A

2 papers

NM_001197104.2

p.S873I

c.2618G>T

1 paper

NM_001197104.2

p.S873R

c.2619T>A