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.K1029insFs

c.3086dupA

Surrounding Variants

1 paper

NM_001197104.2

p.L1027Q

c.3080T>A

5 papers

NM_001197104.2

p.K1028*

c.3082A>T

2 papers

NM_001197104.2

p.K1029fs

c.3085_3086fs

1 paper

NM_001197104.2

p.S1025delFs

c.3074_3075delGC

1 paper

NM_001197104.2

p.A1030fs

c.3088_3089fs

3 papers

NM_001197104.2

p.A1030fs

c.3088_3089fs

2 papers

NM_001197104.2

p.V1023D

c.3068T>A

2 papers

NM_001197104.2

p.A1032S

c.3094G>T

1 paper

NM_001197104.2

p.K1021E

c.3061A>G

1 paper

NM_001197104.2

p.L1034delFs

c.3102delC

1 paper

NM_001197104.2

p.C1035insFs

c.3103_3104insC

1 paper

NM_001197104.2

p.C1035fs

c.3103_3104fs