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

2 papers

NM_001197104.2

p.N2859K

c.8577T>A

Surrounding Variants

2 papers

NM_001197104.2

p.N2859K

c.8577T>G

1 paper

NM_001197104.2

p.L2857Q

c.8570T>A

1 paper

NM_001197104.2

p.M2863insFs

c.8588dupT

1 paper

NM_001197104.2

p.M2863fs

c.8587_8588fs

2 papers

NM_005933.4

p.V2853G

c.8558T>G

2 papers

NM_001197104.2

p.Q2864*

c.8590C>T

2 papers

NM_001197104.2

p.D2854G

c.8561A>G

1 paper

NM_001197104.2

p.D2854V

c.8561A>T

4 papers

NM_001197104.2

p.M2853R

c.8558T>G

2 papers

NM_001197104.2

p.P2849A

c.8545C>G

1 paper

NM_001197104.2

p.E2871K

c.8611G>A

4 papers

NM_001197104.2

p.L2848P

c.8543T>C