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.S70N

c.209G>A

Surrounding Variants

1 paper

NM_001197104.2

p.S70G

c.208A>G

2 papers

NM_001197104.2

p.S70C

c.208A>T

1 paper

NM_001197104.2

p.S70delFs

c.209delG

2 papers

NM_001197104.2

p.G71R

c.211G>A

2 papers

NM_001197104.2

p.G71R

c.211G>C

1 paper

NM_001197104.2

p.G71_A72insCC

c.211_215ins6

1 paper

NM_001197104.2

p.G71A

c.212G>C

1 paper

NM_001197104.2

p.G71_A72insFs

c.213_214insT

1 paper

NM_001197104.2

p.G68G

c.204A>G

4 papers

NM_001197104.2

p.A72T

c.214G>A

1 paper

NM_001197104.2

p.A72P

c.214G>C

5 papers

NM_001197104.2

p.A72V

c.215C>T