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

5 papers

NM_001197104.2

p.R2191*

c.6571C>T

Surrounding Variants

5 papers

NM_001197104.2

p.R2191Q

c.6572G>A

1 paper

NM_001197104.2

p.S2192S

c.6576C>T

3 papers

NM_001197104.2

p.S2188C

c.6563C>G

1 paper

NM_001197104.2

p.S2188fs

c.6562_6563fs

1 paper

NM_001197104.2

p.S2187delFs

c.6561delC

1 paper

NM_001197104.2

p.R2197H

c.6590G>A

1 paper

NM_001197104.2

p.R2197P

c.6590G>C

1 paper

NM_001197104.2

p.S2199fs

c.6595_6596fs

1 paper

NM_005933.4

p.S2199delFs

c.6595delT

1 paper

NM_001197104.2

p.T2180I

c.6539C>T

1 paper

NM_001197104.2

p.S2201S

c.6603T>A

1 paper

NM_001197104.2

p.V2179fs

c.6535_6536fs