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.S2358fs

c.7072_7073fs

Surrounding Variants

1 paper

NM_001197104.2

p.S2358C

c.7073C>G

6 papers

NM_001197104.2

p.P2357R

c.7070C>G

3 papers

NM_005933.4

p.P2354delFs

c.7062delC

NM_001197104.2

p.P2357delFs

c.7071delC

1 paper

NM_001197104.2

p.A2355fs

c.7063_7064fs

3 papers

NM_001197104.2

p.S2363_S2364delFs

c.7087_7090del4

1 paper

NM_001197104.2

p.F2354delFs

c.7062delT

1 paper

NM_001197104.2

p.F2362C

c.7085T>G

1 paper

NM_001197104.2

p.S2353A

c.7057T>G

3 papers

NM_001197104.2

p.S2363fs

c.7087_7088fs

1 paper

NM_001197104.2

p.K2365N

c.7095A>C

1 paper

NM_001197104.2

p.K2365N

c.7095A>T

3 papers

NM_001197104.2

p.E2366A

c.7097A>C