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.Q3198H

c.9594A>T

Surrounding Variants

1 paper

NM_001197104.2

p.Q3198H

c.9594A>C

1 paper

NM_001197104.2

p.D3196fs

c.9586_9587fs

1 paper

NM_001197104.2

p.P3195S

c.9583C>T

1 paper

NM_001197104.2

p.P3194_P3195insG

c.9580_9584ins3

4 papers

NM_001197104.2

p.Q3192P

c.9575A>C

1 paper

NM_001197104.2

p.Q3206H

c.9618G>C

1 paper

NM_001197104.2

p.Q3206H

c.9618G>T

2 papers

NM_001197104.2

p.I3189T

c.9566T>C

1 paper

NM_001197104.2

p.G3186D

c.9557G>A

1 paper

NM_001197104.2

p.S3211I

c.9632G>T

2 papers

NM_001197104.2

p.T3212I

c.9635C>T

1 paper

NM_001197104.2

p.T3213K

c.9638C>A