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.A1140T

c.3418G>A

Surrounding Variants

1 paper

NM_001197104.2

p.K1139_A1140delins

c.3417_3418delinsAA

1 paper

NM_001197104.2

p.Q1142fs

c.3424_3425fs

2 papers

NM_001197104.2

p.R1137*

c.3409A>T

3 papers

NM_001197104.2

p.T1136_R1137insA

c.3406_3410ins3

1 paper

NM_001197104.2

p.P1145A

c.3433C>G

1 paper

NM_001197104.2

p.P1145S

c.3433C>T

1 paper

NM_001197104.2

p.P1134fs

c.3400_3401fs

1 paper

NM_001197104.2

p.P1134delFs

c.3401delC

3 papers

NM_001197104.2

p.K1147M

c.3440A>T

1 paper

NM_001197104.2

p.K1147N

c.3441G>C

1 paper

NM_001197104.2

p.K1147N

c.3441G>T

1 paper

NM_001197104.2

p.I1132V

c.3394A>G