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.Q2337R

c.7010A>G

Surrounding Variants

2 papers

NM_001197104.2

p.Q2337*

c.7009C>T

1 paper

NM_001197104.2

p.P2336insFs

c.7007dupC

1 paper

NM_001197104.2

p.T2341delFs

c.7022_7023delCA

1 paper

NM_001197104.2

p.T2341fs

c.7021_7022fs

1 paper

NM_001197104.2

p.R2344T

c.7031G>C

1 paper

NM_001197104.2

p.G2330V

c.6989G>T

1 paper

NM_001197104.2

p.E2345K

c.7033G>A

1 paper

NM_001197104.2

p.V2326_A2327insCT

c.6976_6980ins6

2 papers

NM_001197104.2

p.S2322T

c.6964T>A

1 paper

NM_001197104.2

p.S2353A

c.7057T>G

1 paper

NM_001197104.2

p.F2354delFs

c.7062delT

1 paper

NM_001197104.2

p.G2321R

c.6961G>A