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.T1171A

c.3511A>G

Surrounding Variants

3 papers

NM_001197104.2

p.C1170F

c.3509G>T

1 paper

NM_001197104.2

p.N1172H

c.3514A>C

3 papers

NM_001197104.2

p.C1170R

c.3508T>C

2 papers

NM_001197104.2

p.N1172K

c.3516T>A

2 papers

NM_001197104.2

p.N1172K

c.3516T>G

1 paper

NM_001197104.2

p.V1169L

c.3505G>C

13 papers

NM_001197104.2

p.G1168D

c.3503G>A

3 papers

NM_001197104.2

p.G1168V

c.3503G>T

1 paper

NM_001197104.2

p.C1167Y

c.3500G>A

1 paper

NM_001197104.2

p.C1167F

c.3500G>T

1 paper

NM_001197104.2

p.D1175delFs

c.3524delA

4 papers

NM_001197104.2

p.C1167R

c.3499T>C