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

13 papers

NM_001197104.2

p.A53V

c.158C>T

Surrounding Variants

2 papers

NM_001197104.2

p.A53T

c.157G>A

1 paper

NM_001197104.2

p.P54T

c.160C>A

1 paper

NM_001197104.2

p.P54A

c.160C>G

1 paper

NM_001197104.2

p.P54H

c.161C>A

1 paper

NM_001197104.2

p.A53_A66del14

c.157_197del42

1 paper

NM_001197104.2

p.P54P

c.162C>G

1 paper

NM_001197104.2

p.P51S

c.151C>T

8 papers

NM_001197104.2

p.P51fs

c.151_152fs

1 paper

NM_001197104.2

p.S56A

c.166T>G

5 papers

NM_001197104.2

p.P58insFs

c.173dupC

3 papers

NM_001197104.2

p.P58delFs

c.173delC

1 paper

NM_001197104.2

p.P57T

c.169C>A