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.P841delFs

c.2522_2523delCA

Surrounding Variants

1 paper

NM_001197104.2

p.P841S

c.2521C>T

1 paper

NM_001197104.2

p.T840delFs

c.2519_2520delCC

1 paper

NM_001197104.2

p.S843C

c.2528C>G

1 paper

NM_001197104.2

p.S843F

c.2528C>T

4 papers

NM_001197104.2

p.W838*

c.2514G>A

4 papers

NM_001197104.2

p.F839_S843del5

c.2515_2528del15

4 papers

NM_001197104.2

p.W838*

c.2513G>A

1 paper

NM_001197104.2

p.W838L

c.2513G>T

1 paper

NM_001197104.2

p.Q844delFs

c.2530delC

1 paper

NM_001197104.2

p.Q844*

c.2530C>T

1 paper

NM_001197104.2

p.Q844fs

c.2530_2531fs

2 papers

NM_001197104.2

p.W838fs

c.2512_2513fs