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.M2497fs

c.7489_7490fs

Surrounding Variants

1 paper

NM_001197104.2

p.S2496insFs

c.7487_7488ins5

1 paper

NM_001197104.2

p.G2499delFs

c.7497delA

1 paper

NM_001197104.2

p.V2500fs

c.7498_7499fs

1 paper

NM_001197104.2

p.K2493ins1

c.7478_7479insCAC

2 papers

NM_001197104.2

p.P2505H

c.7514C>A

1 paper

NM_001197104.2

p.D2488N

c.7462G>A

2 papers

NM_001197104.2

p.E2509K

c.7525G>A

1 paper

NM_001197104.2

p.E2509Q

c.7525G>C

1 paper

NM_001197104.2

p.G2510E

c.7529G>A

1 paper

NM_001197104.2

p.S2511F

c.7532C>T

2 papers

NM_001197104.2

p.R2480Q

c.7439G>A

1 paper

NM_001197104.2

p.R2480L

c.7439G>T