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.L3393P

c.10178T>C

Surrounding Variants

1 paper

NM_001197104.2

p.G3394E

c.10181G>A

1 paper

NM_001197104.2

p.S3392T

c.10175G>C

1 paper

NM_001197104.2

p.Q3391*

c.10171C>T

2 papers

NM_001197104.2

p.Q3390*

c.10168C>T

1 paper

NM_001197104.2

p.P3399H

c.10196C>A

1 paper

NM_001197104.2

p.K3387E

c.10159A>G

1 paper

NM_001197104.2

p.L3384insFs

c.10150_10151ins5

1 paper

NM_001197104.2

p.L3384F

c.10150C>T

1 paper

NM_001197104.2

p.L3384fs

c.10150_10151fs

1 paper

NM_001197104.2

p.N3383T

c.10148A>C

2 papers

NM_001197104.2

p.P3403L

c.10208C>T

1 paper

NM_001197104.2

p.P3404T

c.10210C>A