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.S3342A

c.10024T>G

Surrounding Variants

1 paper

NM_001197104.2

p.S3341C

c.10022C>G

1 paper

NM_001197104.2

p.L3344F

c.10032G>C

1 paper

NM_001197104.2

p.L3344F

c.10032G>T

1 paper

NM_001197104.2

p.S3339A

c.10015T>G

1 paper

NM_001197104.2

p.M3349V

c.10045A>G

1 paper

NM_001197104.2

p.M3349fs

c.10045_10046fs

1 paper

NM_001197104.2

p.M3349insFs

c.10046_10047insC

4 papers

NM_001197104.2

p.T3351delFs

c.10051delA

1 paper

NM_001197104.2

p.T3351fs

c.10051_10052fs

2 papers

NM_001197104.2

p.T3351A

c.10051A>G

2 papers

NM_001197104.2

p.T3351fs

c.10051_10052fs

1 paper

NM_001197104.2

p.P3355insFs

c.10064dupC