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.G2321R

c.6961G>A

Surrounding Variants

1 paper

NM_001197104.2

p.G2321R

c.6961G>C

2 papers

NM_001197104.2

p.S2322T

c.6964T>A

3 papers

NM_001197104.2

p.S2319T

c.6955T>A

1 paper

NM_001197104.2

p.S2318_S2319insC

c.6952_6956ins3

1 paper

NM_001197104.2

p.S2318_S2319del2

c.6952_6956del6

1 paper

NM_001197104.2

p.V2326_A2327insCT

c.6976_6980ins6

1 paper

NM_001197104.2

p.S2316P

c.6946T>C

1 paper

NM_001197104.2

p.G2330V

c.6989G>T

2 papers

NM_001197104.2

p.T2311_K2312insC

c.6931_6935ins3

1 paper

NM_001197104.2

p.K2307N

c.6921G>C

1 paper

NM_001197104.2

p.K2307N

c.6921G>T

1 paper

NM_001197104.2

p.P2336insFs

c.7007dupC