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

1–12 of 2975 variants

23 papers

NM_001197104.2

p.P773insFs

c.2318dupC

23 papers

NM_001197104.2

p.R1154W

c.3460C>T

21 papers

NM_001197104.2

p.S774fs

c.2320_2321fs

18 papers

NM_001197104.2

p.P773fs

c.2317_2318fs

14 papers

NM_001197104.2

p.C1189Y

c.3566G>A

13 papers

NM_001197104.2

p.A53V

c.158C>T

13 papers

NM_001197104.2

p.P773delFs

c.2318delC

13 papers

NM_001197104.2

p.C1155Y

c.3464G>A

13 papers

NM_001197104.2

p.G1168D

c.3503G>A

13 papers

NM_001197104.2

p.C1448R

c.4342T>C

13 papers

NM_001197104.2

p.R2480*

c.7438C>T

12 papers

NM_001197104.2

p.C1194Y

c.3581G>A