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.E984*

c.2950G>T

Surrounding Variants

1 paper

NM_001197104.2

p.E984Q

c.2950G>C

4 papers

NM_001197104.2

p.S982T

c.2944T>A

1 paper

NM_001197104.2

p.E986_K987insFs

c.2958_2959ins4

1 paper

NM_001197104.2

p.P981S

c.2941C>T

1 paper

NM_001197104.2

p.T988delFs

c.2963_2964delCC

4 papers

NM_001197104.2

p.L989F

c.2965C>T

1 paper

NM_001197104.2

p.C990insFs

c.2968_2969ins4

1 paper

NM_001197104.2

p.C990*

c.2970C>A

1 paper

NM_001197104.2

p.L991I

c.2971C>A

1 paper

NM_001197104.2

p.T993A

c.2977A>G

1 paper

NM_001197104.2

p.N973K

c.2919C>A

1 paper

NM_001197104.2

p.N973K

c.2919C>G