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.Q2384*

c.7150C>T

Surrounding Variants

9 papers

NM_001197104.2

p.R2382*

c.7144C>T

1 paper

NM_001197104.2

p.T2386I

c.7157C>T

1 paper

NM_001197104.2

p.D2387V

c.7160A>T

2 papers

NM_001197104.2

p.R2379K

c.7136G>A

1 paper

NM_001197104.2

p.H2374R

c.7121A>G

1 paper

NM_001197104.2

p.S2395P

c.7183T>C

1 paper

NM_001197104.2

p.H2372P

c.7115A>C

2 papers

NM_001197104.2

p.P2396_D2397insFs

c.7187_7191dup5

1 paper

NM_001197104.2

p.H2372Y

c.7114C>T

1 paper

NM_001197104.2

p.H2372fs

c.7114_7115fs

1 paper

NM_001197104.2

p.P2396delFs

c.7187_7188delCA

1 paper

NM_001197104.2

p.P2396fs

c.7186_7187fs