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

3 papers

NM_001197104.2

p.R1182H

c.3545G>A

Surrounding Variants

1 paper

NM_001197104.2

p.R1182P

c.3545G>C

1 paper

NM_001197104.2

p.R1182S

c.3544C>A

1 paper

NM_001197104.2

p.R1182C

c.3544C>T

1 paper

NM_001197104.2

p.N1183I

c.3548A>T

7 papers

NM_001197104.2

p.G1181D

c.3542G>A

2 papers

NM_001197104.2

p.G1181C

c.3541G>T

1 paper

NM_001197104.2

p.I1184V

c.3550A>G

2 papers

NM_001197104.2

p.G1180A

c.3539G>C

4 papers

NM_001197104.2

p.G1180V

c.3539G>T

2 papers

NM_001197104.2

p.I1184T

c.3551T>C

1 paper

NM_001197104.2

p.F1179C

c.3536T>G

1 paper

NM_001197104.2

p.K1185_K1186insFs

c.3555_3556insA