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.R3545Q

c.10634G>A

Surrounding Variants

1 paper

NM_001197104.2

p.P3549S

c.10645C>T

1 paper

NM_001197104.2

p.P3549H

c.10646C>A

1 paper

NM_001197104.2

p.L3550V

c.10648C>G

1 paper

NM_001197104.2

p.K3538N

c.10614A>C

1 paper

NM_001197104.2

p.K3538N

c.10614A>T

1 paper

NM_001197104.2

p.P3536L

c.10607C>T

2 papers

NM_001197104.2

p.G3555S

c.10663G>A

1 paper

NM_001197104.2

p.G3555_K3556insA

c.10663_10667ins3

1 paper

NM_001197104.2

p.K3559*

c.10675A>T

2 papers

NM_001197104.2

p.P3531L

c.10592C>T

1 paper

NM_001197104.2

p.P3531T

c.10591C>A

1 paper

NM_001197104.2

p.S3561A

c.10681T>G