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.H2374R

c.7121A>G

Surrounding Variants

1 paper

NM_001197104.2

p.H2372P

c.7115A>C

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.P2371P

c.7113A>C

1 paper

NM_001197104.2

p.P2371insFs

c.7113dupA

2 papers

NM_001197104.2

p.P2371fs

c.7111_7112fs

1 paper

NM_001197104.2

p.P2371delFs

c.7112delC

2 papers

NM_001197104.2

p.R2379K

c.7136G>A

9 papers

NM_001197104.2

p.R2382*

c.7144C>T

3 papers

NM_001197104.2

p.E2366A

c.7097A>C

1 paper

NM_001197104.2

p.K2365N

c.7095A>C

1 paper

NM_001197104.2

p.K2365N

c.7095A>T