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.A1212Splc

c.3634+1G>C

Surrounding Variants

4 papers

NM_001197104.2

p.A1212Splc

c.3634+1G>A

1 paper

NM_001197104.2

p.A1212Splc

c.3634+2T>C

4 papers

NM_001197104.2

p.A1212Splc

c.3634+4G>A

1 paper

NM_001197104.2

p.Q1209P

c.3626A>C

1 paper

NM_001197104.2

p.Q1209*

c.3625C>T

2 papers

NM_001197104.2

p.Q1207*

c.3619C>T

3 papers

NM_001197104.2

p.Y1205H

c.3613T>C

1 paper

NM_001197104.2

p.Y1205fs

c.3613_3614fs

1 paper

NM_001197104.2

p.A1204_L1206Fs

c.3612_3616delinsTFs

1 paper

NM_001197104.2

p.A1204V

c.3611C>T

1 paper

NM_001197104.2

p.K1203Q

c.3607A>C

3 papers

NM_001197104.2

p.S1202fs

c.3604_3605fs